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EBI Dbfetch

LOCUS       NM_000231               1661 bp    mRNA    linear   PRI 25-MAY-2014
DEFINITION  Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated
            glycoprotein) (SGCG), mRNA.
ACCESSION   NM_000231
VERSION     NM_000231.2  GI:209529740
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1661)
  AUTHORS   Saxena R, Saleheen D, Been LF, Garavito ML, Braun T, Bjonnes A,
            Young R, Ho WK, Rasheed A, Frossard P, Sim X, Hassanali N, Radha V,
            Chidambaram M, Liju S, Rees SD, Ng DP, Wong TY, Yamauchi T, Hara K,
            Tanaka Y, Hirose H, McCarthy MI, Morris AP, Basit A, Barnett AH,
            Katulanda P, Matthews D, Mohan V, Wander GS, Singh JR, Mehra NK,
            Ralhan S, Kamboh MI, Mulvihill JJ, Maegawa H, Tobe K, Maeda S, Cho
            YS, Tai ES, Kelly MA, Chambers JC, Kooner JS, Kadowaki T, Deloukas
            P, Rader DJ, Danesh J and Sanghera DK.
  CONSRTM   DIAGRAM; MuTHER; AGEN
  TITLE     Genome-wide association study identifies a novel locus contributing
            to type 2 diabetes susceptibility in Sikhs of Punjabi origin from
            India
  JOURNAL   Diabetes 62 (5), 1746-1755 (2013)
   PUBMED   23300278
  REMARK    GeneRIF: Data suggest that an SNP in an intron of SGCG (rs9552911)
            is associated with type 2 diabetes [Genome-Wide Association Study
            in Sikh populations in India & Meta-Analysis]
REFERENCE   2  (bases 1 to 1661)
  AUTHORS   Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A,
            Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN,
            Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM,
            Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang
            W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ,
            Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC,
            Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis
            S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X,
            Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan
            BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale
            LR, Allingham RR, Ashley-Koch A, Mitchell P, Wang JJ, Wright AF,
            Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery
            GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP,
            Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA,
            Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S and
            Wong TY.
  CONSRTM   NEIGHBOR Consortium
  TITLE     Genome-wide association analyses identify multiple loci associated
            with central corneal thickness and keratoconus
  JOURNAL   Nat. Genet. 45 (2), 155-163 (2013)
   PUBMED   23291589
REFERENCE   3  (bases 1 to 1661)
  AUTHORS   Ordonez-Razo RM, Garrido-Garduno MH, Perez-Martinez RA, Ruiz VM,
            Herrera-Tepatlan E, Rodriguez-Cruz M, Jimenez-Vaca AL,
            Minauro-Sanmiguel F and Salamanca-Gomez FA.
  TITLE     A delta-sarcoglycan gene polymorphism as a risk factor for
            hypertrophic cardiomyopathy
  JOURNAL   Genet Test Mol Biomarkers 16 (8), 855-858 (2012)
   PUBMED   22524166
  REMARK    GeneRIF: The C allele of the c.-94C>G polymorphism in
            delta-sarcoglycan is a risk factor for HCM, which is increased by
            the Amerindian component and can play an important role in the
            etiology and progression of disease in Mexican patients
REFERENCE   4  (bases 1 to 1661)
  AUTHORS   Frank J, Cichon S, Treutlein J, Ridinger M, Mattheisen M, Hoffmann
            P, Herms S, Wodarz N, Soyka M, Zill P, Maier W, Mossner R, Gaebel
            W, Dahmen N, Scherbaum N, Schmal C, Steffens M, Lucae S, Ising M,
            Muller-Myhsok B, Nothen MM, Mann K, Kiefer F and Rietschel M.
  TITLE     Genome-wide significant association between alcohol dependence and
            a variant in the ADH gene cluster
  JOURNAL   Addict Biol 17 (1), 171-180 (2012)
   PUBMED   22004471
REFERENCE   5  (bases 1 to 1661)
  AUTHORS   Smith EN, Koller DL, Panganiban C, Szelinger S, Zhang P, Badner JA,
            Barrett TB, Berrettini WH, Bloss CS, Byerley W, Coryell W, Edenberg
            HJ, Foroud T, Gershon ES, Greenwood TA, Guo Y, Hipolito M, Keating
            BJ, Lawson WB, Liu C, Mahon PB, McInnis MG, McMahon FJ, McKinney R,
            Murray SS, Nievergelt CM, Nurnberger JI Jr, Nwulia EA, Potash JB,
            Rice J, Schulze TG, Scheftner WA, Shilling PD, Zandi PP, Zollner S,
            Craig DW, Schork NJ and Kelsoe JR.
  TITLE     Genome-wide association of bipolar disorder suggests an enrichment
            of replicable associations in regions near genes
  JOURNAL   PLoS Genet. 7 (6), E1002134 (2011)
   PUBMED   21738484
REFERENCE   6  (bases 1 to 1661)
  AUTHORS   McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira
            E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M and Kunkel LM.
  TITLE     Mild and severe muscular dystrophy caused by a single
            gamma-sarcoglycan mutation
  JOURNAL   Am. J. Hum. Genet. 59 (5), 1040-1047 (1996)
   PUBMED   8900232
REFERENCE   7  (bases 1 to 1661)
  AUTHORS   Jung D, Leturcq F, Sunada Y, Duclos F, Tome FM, Moomaw C, Merlini
            L, Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan JC and
            Campbell KP.
  TITLE     Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive
            muscular dystrophy linked to chromosome 13q12
  JOURNAL   FEBS Lett. 381 (1-2), 15-20 (1996)
   PUBMED   8641426
REFERENCE   8  (bases 1 to 1661)
  AUTHORS   Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida
            M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T,
            Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM
            and Ozawa E.
  TITLE     Mutations in the dystrophin-associated protein gamma-sarcoglycan in
            chromosome 13 muscular dystrophy
  JOURNAL   Science 270 (5237), 819-822 (1995)
   PUBMED   7481775
REFERENCE   9  (bases 1 to 1661)
  AUTHORS   Ben Othmane,K., Speer,M.C., Stauffer,J., Blel,S., Middleton,L., Ben
            Hamida,C., Etribi,A., Loeb,D., Hentati,F., Roses,A.D. et al.
  TITLE     Evidence for linkage disequilibrium in chromosome 13-linked
            Duchenne-like muscular dystrophy (LGMD2C)
  JOURNAL   Am. J. Hum. Genet. 57 (3), 732-734 (1995)
   PUBMED   7668303
REFERENCE   10 (bases 1 to 1661)
  AUTHORS   Jorde LB, Watkins WS, Viskochil D, O'Connell P and Ward K.
  TITLE     Linkage disequilibrium in the neurofibromatosis 1 (NF1) region:
            implications for gene mapping
  JOURNAL   Am. J. Hum. Genet. 53 (5), 1038-1050 (1993)
   PUBMED   8105688
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356287.16, DA897096.1,
            BC074778.2 and U34976.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 16, 2008 this sequence version replaced gi:4557846.

            Summary: This gene encodes gamma-sarcoglycan, one of several
            sarcolemmal transmembrane glycoproteins that interact with
            dystrophin. The dystrophin-glycoprotein complex (DGC) spans the
            sarcolemma and is comprised of dystrophin, syntrophin, alpha- and
            beta-dystroglycans and sarcoglycans. The DGC provides a structural
            link between the subsarcolemmal cytoskeleton and the extracellular
            matrix of muscle cells. Defects in the encoded protein can lead to
            early onset autosomal recessive muscular dystrophy, in particular
            limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by
            RefSeq, Oct 2008].

            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.

            ##Evidence-Data-START##
            Transcript exon combination :: U34976.1, BC109321.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                AL356287.16        145490-145573
            85-651              DA897096.1         1-567
            652-1059            BC074778.2         539-946
            1060-1661           U34976.1           1029-1630
FEATURES             Location/Qualifiers
     source          1..1661
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12"
     gene            1..1661
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /note="sarcoglycan, gamma (35kDa dystrophin-associated
                     glycoprotein)"
                     /db_xref="GeneID:6445"
                     /db_xref="HGNC:HGNC:10809"
                     /db_xref="HPRD:07039"
                     /db_xref="MIM:608896"
     exon            1..155
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /inference="alignment:Splign:1.39.8"
     STS             41..1123
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /db_xref="UniSTS:489652"
     variation       68
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4770403"
     misc_feature    72..74
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /note="upstream in-frame stop codon"
     STS             113..1059
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /db_xref="UniSTS:481904"
     variation       121
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372088302"
     variation       150
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141771521"
     CDS             156..1031
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /note="35kD dystrophin-associated glycoprotein; gamma
                     sarcoglycan; 35DAG; gamma-SG; 35 kDa dystrophin-associated
                     glycoprotein"
                     /codon_start=1
                     /product="gamma-sarcoglycan"
                     /protein_id="NP_000222.1"
                     /db_xref="GI:4557847"
                     /db_xref="CCDS:CCDS9299.1"
                     /db_xref="GeneID:6445"
                     /db_xref="HGNC:HGNC:10809"
                     /db_xref="HPRD:07039"
                     /db_xref="MIM:608896"
                     /translation="MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLL
                     IILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSS
                     LLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
                     GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKI
                     EALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSV
                     AGVSTTCQEHSHICL"
     misc_feature    222..1007
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /note="Sarcoglycan complex subunit protein; Region:
                     Sarcoglycan_1; pfam04790"
                     /db_xref="CDD:252803"
     misc_feature    267..329
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13326.4);
                     transmembrane region"
     exon            156..350
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /inference="alignment:Splign:1.39.8"
     variation       162
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140310896"
     variation       163
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35105771"
     variation       172
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148041867"
     variation       221
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376410504"
     variation       236
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202078221"
     variation       249
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:76916029"
     variation       257
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140810408"
     variation       267
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800349"
     variation       297
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369936288"
     variation       312
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138880406"
     variation       321
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:373083509"
     exon            351..452
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /inference="alignment:Splign:1.39.8"
     variation       367
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143009120"
     variation       383
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800350"
     variation       390
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148404730"
     variation       391
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375766013"
     variation       392
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201144588"
     variation       422
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149595403"
     variation       425
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:368524463"
     exon            453..540
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /inference="alignment:Splign:1.39.8"
     variation       458
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:144277094"
     variation       459
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201683351"
     variation       467
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1800351"
     variation       473
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371622125"
     variation       481
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201514102"
     variation       500
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1800352"
     variation       501
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191040430"
     variation       502
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:17314986"
     variation       509
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376184429"
     variation       526
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:183204936"
     variation       534
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368149615"
     exon            541..660
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /inference="alignment:Splign:1.39.8"
     variation       583
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369818411"
     variation       590
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35628352"
     variation       591
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373442790"
     variation       593
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144497243"
     variation       594
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374836520"
     variation       605
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369191957"
     variation       610
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201329880"
     variation       621
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:181210672"
     exon            661..733
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /inference="alignment:Splign:1.39.8"
     variation       662
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:199905729"
     variation       677
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146679977"
     variation       684
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375592456"
     variation       690
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139072866"
     variation       694
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:114160429"
     variation       719
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367595212"
     exon            734..857
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /inference="alignment:Splign:1.39.8"
     variation       751
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200191311"
     variation       770
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:142409090"
     variation       783
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368027244"
     variation       808
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202045534"
     variation       810
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375904616"
     variation       812
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368393587"
     variation       825
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372188878"
     exon            858..1655
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /inference="alignment:Splign:1.39.8"
     variation       860
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800353"
     variation       861
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201788230"
     variation       871
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149086397"
     variation       890
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373785384"
     variation       892
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377625551"
     variation       906
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201535503"
     variation       942
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:104894423"
     variation       947
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377620885"
     variation       958
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143110015"
     variation       987
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147820869"
     variation       1003
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:104894422"
     variation       1010
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370309494"
     variation       1015
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1800354"
     variation       1041
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139369964"
     variation       1044
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:9510701"
     variation       1084
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:188804783"
     variation       1085
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:193022162"
     STS             1101..1314
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /standard_name="SGC35673"
                     /db_xref="UniSTS:27907"
     variation       1132
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:75252896"
     variation       1144..1158
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace=""
                     /replace="ccagaggaactcaga"
                     /db_xref="dbSNP:149533619"
     variation       complement(1167)
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3751372"
     variation       1176
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:150043089"
     STS             1198..1421
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /standard_name="STS-U34976"
                     /db_xref="UniSTS:28147"
     variation       complement(1198)
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145339454"
     variation       1216
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115918628"
     variation       complement(1285)
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3751371"
     variation       1285
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:386585450"
     variation       1322
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373623927"
     variation       complement(1326)
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3829352"
     variation       1327
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115862132"
     variation       1333
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:78718194"
     variation       1340
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377364360"
     variation       1509
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:184625354"
     variation       1536
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7329620"
     variation       1542
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372148320"
     variation       1577
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:41283956"
     polyA_signal    1631..1636
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
     variation       complement(1643)
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147879467"
     polyA_site      1655
                     /gene="SGCG"
                     /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM;
                     SCARMD2; SCG3; TYPE"
ORIGIN
       1  GAAACTCGTG AGAGCCCTTT CTCCAGGGAC AGTTGCTGAA GCTTCATCCT TTGCTCTCAT
      61  TCTGTAAGTC ATAGAAAAGT TTGAAACATT CTGTCTGTGG TAGAGCTCGG GCCAGCTGTA
     121  GTTCATTCGC CAGTGTGCTT TTCTTAATAT CTAAGATGGT GCGTGAGCAG TACACTACAG
     181  CCACAGAAGG CATCTGCATA GAGAGGCCAG AGAATCAGTA TGTCTACAAA ATTGGCATTT
     241  ATGGCTGGAG AAAGCGCTGT CTCTACTTGT TTGTTCTTCT TTTACTCATC ATCCTCGTTG
     301  TGAATTTAGC TCTTACAATT TGGATTCTTA AAGTGATGTG GTTTTCTCCA GCAGGAATGG
     361  GCCACTTGTG TGTAACAAAA GATGGACTGC GCTTGGAAGG GGAATCAGAA TTTTTATTCC
     421  CATTGTATGC CAAAGAAATA CACTCCAGAG TGGACTCATC TCTGCTTCTA CAATCAACCC
     481  AGAATGTGAC TGTAAATGCG CGCAACTCAG AAGGGGAGGT CACAGGCAGG TTAAAAGTCG
     541  GTCCCAAAAT GGTAGAAGTC CAGAATCAAC AGTTTCAGAT CAACTCCAAC GACGGCAAGC
     601  CACTATTTAC TGTAGATGAG AAGGAAGTTG TGGTTGGTAC AGATAAACTT CGAGTAACTG
     661  GGCCTGAAGG GGCTCTTTTT GAACATTCAG TGGAGACACC CCTTGTCAGA GCCGACCCGT
     721  TTCAAGACCT TAGATTAGAA TCCCCCACTC GGAGTCTAAG CATGGATGCC CCAAGGGGTG
     781  TGCATATTCA AGCTCACGCT GGGAAAATTG AGGCGCTTTC TCAAATGGAT ATTCTTTTTC
     841  ATAGTAGTGA TGGAATGCTT GTGCTTGATG CTGAAACTGT GTGCTTACCC AAGCTGGTGC
     901  AGGGGACGTG GGGTCCCTCT GGCAGCTCAC AGAGCCTCTA CGAAATCTGT GTGTGTCCAG
     961  ATGGGAAGCT GTACCTGTCT GTGGCCGGTG TGAGCACCAC GTGCCAGGAG CACAGCCACA
    1021  TCTGCCTCTG AGCTGCCTGC GTCCTCTCGG TGAGCTGTGC AGTGCCGGCC CCAGATCCTC
    1081  ACACCCAGGG AGCAGCTGCA CATCGTGAAA GACTGAGGCA GCGTGGATGG GAAGTAAACG
    1141  CTTCCAGAGG AACTCAGAAA AAATTATGTG CCAGTGAAAG TGTTTGGACA AAAACTACAT
    1201  GATCTCAAAA TGCACGTGGA TGTGAGACAC AAAAGTTGAC AAAATGGAAA AGCAATGTGT
    1261  TTTTCCACTG GATTAATTTT CACCGGAACA ATTGCGAATT CTCTCTGCCT CGCCTCCCCC
    1321  TATCTTGTCC GTGTGGGCAC ACACTGAGTG TTGAGTTGCC GTGTGGAGTT AATGTATGAC
    1381  GCTCCACTGT GGATATCTAA TGCCCTGTTG AGAGTAGCCT TGCTCAGTAC TAAAATGCCC
    1441  CAAAGTTCTA TACAGCATTT CCTTTATAGC ATTCAAACCT CACATCCTCC CTTCAGTTTA
    1501  ATGCAAGTAA GTCAGGTTTC ACAAGAAAAT TTTCAAGTTT TGAAGGGAAT TTGAGGTTGA
    1561  TCTGGTTTTC AAGATGTAGT TAAAGGAATA AATCACTCAA AATTAAACTT TCTGTATATA
    1621  GTCAATAAGC AATAAAAACC TCATTTTTCA GAGTTAAAAA A
//



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