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EBI Dbfetch

ID   AJ532607; SV 1; linear; genomic DNA; STD; HUM; 3447 BP.
XX
AC   AJ532607;
XX
DT   11-JAN-2003 (Rel. 74, Created)
DT   17-JUN-2008 (Rel. 96, Last updated, Version 3)
XX
DE   Homo sapiens HLA-A gene for MHC class I antigen, HLA-A*03 null variant
DE   allele, exons 1-3
XX
KW   HLA-A gene; HLA-A*03 null variant allele; human leucocyte antigen A;
KW   major histocompatibility complex; MHC class I antigen.
XX
OS   Homo sapiens (human)
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
XX
RN   [1]
RP   1-3447
RA   Dunn P.P.;
RT   ;
RL   Submitted (04-DEC-2002) to the INSDC.
RL   Dunn P.P., H & I DNA Reference Laboratory, National Blood Service,
RL   Southmead Road, Bristol, BS10 5ND, UNITED KINGDOM.
XX
RN   [2]
RA   Hammond L., Downing J., Dunn P.P., Darke C.;
RT   "Characterization of four new HLA null alleles identified by disparities
RT   between serological and molecular typing of 6,000 potential Welsh bone
RT   marrow donors";
RL   Unpublished.
XX
DR   MD5; 482a28c1dca3d1873c9a5b432e6e98d0.
DR   Ensembl-Gn; ENSG00000206503; homo_sapiens.
DR   Ensembl-Tr; ENST00000376802; homo_sapiens.
DR   Ensembl-Tr; ENST00000376806; homo_sapiens.
DR   Ensembl-Tr; ENST00000376809; homo_sapiens.
DR   Ensembl-Tr; ENST00000396634; homo_sapiens.
XX
CC   Related entry AJ532608
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..3447
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /mol_type="genomic DNA"
FT                   /haplotype="HLA-A*03,*32;B*07,*40;Cw*07,*15"
FT                   /note="HLA-A3 null by serology but A*03 by PCR-SSP typing"
FT                   /db_xref="taxon:9606"
FT   CDS             join(343..415,546..815,1057..1139)
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03 null variant"
FT                   /product="MHC class I antigen"
FT                   /function="antigen presenting molecule"
FT                   /db_xref="GOA:Q861Q7"
FT                   /db_xref="IMGT/HLA:A*03:11N"
FT                   /db_xref="InterPro:IPR001039"
FT                   /db_xref="InterPro:IPR011161"
FT                   /db_xref="InterPro:IPR011162"
FT                   /db_xref="InterPro:IPR027648"
FT                   /db_xref="UniProtKB/TrEMBL:Q861Q7"
FT                   /protein_id="CAD58883.1"
FT                   /translation="MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPR
FT                   FIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGT
FT                   LRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDA"
FT   exon            <343..415
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03 null variant"
FT                   /number=1
FT   intron          416..545
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03 null variant"
FT                   /number=1
FT   exon            546..815
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03 null variant"
FT                   /number=2
FT   intron          816..1056
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03 null variant"
FT                   /number=2
FT   exon            1057..>1139
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03 null variant"
FT                   /number=3
FT   variation       1139
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03 null"
FT                   /replace="c"
XX
SQ   Sequence 3447 BP; 662 A; 998 C; 1062 G; 725 T; 0 other;
     gggccaagac ctcagggaga cattgagaca gagcgcttcg cacaggagca gaggggtcag        60
     ggcgaagtcc cagggcccca ggcgtggctc tcagagtctc aggccccgaa ggcggtgtat       120
     ggattgggga gtcccagcct tggggattcc ccaactccgc agtttctttt ctccctctcc       180
     caacctacgt agggtccttc atcctggata ctcacgacgc ggacccagtt ctcactccca       240
     ttgggtgtcg ggtttccaga gaagccaatc agtgtcgtcg cggtcgctgt tctaaagccc       300
     gcacgcaccc accgggactc agattctccc cagacgccga ggatggccgt catggcgccc       360
     cgaaccctcc tcctgctact ctcgggggcc ctggccctga cccagacctg ggcgggtgag       420
     tgcggggtcg ggagggaaac cgcctctgcg gggagaagca aggggccctc ctggcggggg       480
     cgcaggaccg ggggagccgc gccgggacga gggtcgggca ggtctcagcc actgctcgcc       540
     cccaggctcc cactccatga ggtatttctt cacatccgtg tcccggcccg gccgcgggga       600
     gccccgcttc atcgccgtgg gctacgtgga cgacacgcag ttcgtgcggt tcgacagcga       660
     cgccgcgagc cagaggatgg agccgcgggc gccgtggata gagcaggagg ggccggagta       720
     ttgggaccag gagacacgga atgtgaaggc ccagtcacag actgaccgag tggacctggg       780
     gaccctgcgc ggctactaca accagagcga ggccggtgag tgaccccggc cgggggcgca       840
     ggtcaggacc cctcatcccc cacggacggg ccaggtcgcc cacagtctcc gggtccgaga       900
     tccaccccga agccgcggga ccccgagacc cttgccccgg gagaggccca ggcgccttta       960
     cccggtttca ttttcagttt aggccaaaaa tccccccggg ttggtcgggg ctgggcgggg      1020
     ctcgggggac tgggctgacc gcggggtcgg ggccaggttc tcacaccatc cagataatgt      1080
     atggctgcga cgtggggtcg gacgggcgct tcctccgcgg gtaccggcag gacgcctaag      1140
     acggcaagga ttacatcgcc ctgaacgagg acctgcgctc ttggaccgcg gcggacatgg      1200
     cggctcagat caccaagcgc aagtgggagg cggcccatga ggcggagcag ttgagagcct      1260
     acctggatgg cacgtgcgtg gagtggctcc gcagatacct ggagaacggg aaggagacgc      1320
     tgcagcgcac gggtaccagg ggccacgggg cgcctccctg atcgcctgta gatctcccgg      1380
     gctggcctcc cacaaggagg ggagacaatt gggaccaaca ctagaatatc accctccctc      1440
     tggtcctgag ggagaggaat cctcctgggt tccagatcct gtaccagaga gtgactctga      1500
     ggttccgccc tgctctctga cacaattaag ggataaaatc tctgaaggag tgacgggaag      1560
     acgatccctc gaatactgat gagtggttcc ctttgacacc ggcagcagcc ttgggcccgt      1620
     gacttttcct ctcaggcctt gttctctgct tcacactcaa tgtgtgtggg ggtctgagtc      1680
     cagcacttct gagtccctca gcctccactc aggtcaggac cagaagtcgc tgttcccttc      1740
     tcagggaata gaagattatc ccaggtgcct gtgtccaggc tggtgtctgg gttctgtgct      1800
     ctcttcccca tcccgggtgt cctgtccatt ctcaagatgg ccacatgcgt gctggtggag      1860
     tgtcccatga cagatgcaaa atgcctgaat tttctgactc ttcccgtcag acccccccaa      1920
     gacacatatg acccaccacc ccatctctga ccatgaggcc accctgaggt gctgggccct      1980
     gggcttctac cctgcggaga tcacactgac ctggcagcgg gatggggagg accagaccca      2040
     ggacacggag ctcgtggaga ccaggcctgc aggggatgga accttccaga agtgggcggc      2100
     tgtggtggtg ccttctggag aggagcagag atacacctgc catgtgcagc atgagggtct      2160
     gcccaagccc ctcaccctga gatggggtaa ggagggagat gggggtgtca tgtctcttag      2220
     ggaaagcagg agcctctctg gagaccttta gcagggtcag ggcccctcac cttcccctct      2280
     tttcccagag ctgtcttccc agcccaccat ccccatcgtg ggcatcattg ctggcctggt      2340
     tctccttgga gctgtgatca ctggagctgt ggtcgctgcc gtgatgtgga ggaggaagag      2400
     ctcaggtgga gaaggggtga agggtggggt ctgagatttc ttgtctcact gagggttcca      2460
     agccccagct agaaatgtgc cctgtctcat tactgggaag caccgtccac aatcatgggc      2520
     ctacccagtc tgggccctgt gtgccagcac ttactctttt gtaaagcacc tgttaaaatg      2580
     aaggacagat ttatcacctt gattacggcg gtgatgggac ctgatcccag cagtcacaag      2640
     tcacagggga aggtccctga ggacagacct caggagggct attggtccag gacccacacc      2700
     tgctttcttc atgtttcctg atcccgccct gggtctgcag tcacacattt ctggaaactt      2760
     ctctggggtc caagactagg aggttcctct aggaccttaa ggccctggct cctttctggt      2820
     atctcacagg acattttctt ctcacagata gaaaaggagg gagttacact caggctgcaa      2880
     gtaagtatga aggaggctga tgcctgaggt ccttgggata ttgtgtttgg gagcccatgg      2940
     gggagcccac ccacctcaca attcctcctc tagccacatc ttctgtggga tctgaccagg      3000
     ttctgttttt gttctacccc aggcagtgac agtgcccagg gctctgatgt gtccctcaca      3060
     gcttgtaaag gtgagagctt ggaggaccta atgtgtgttg ggtgttgggc ggaacagtgg      3120
     acacagctgt gctatggggt ttctttgcat tggatgtatt gagcatgcga tgggctgttt      3180
     aaggtgtgac ccctcactgt gatggatatg aatttgttca tgaatatttt tttctatagt      3240
     gtgagacagc tgccttgtgt gggactgaga ggcaagagtt gttcctgccc ttccctttgt      3300
     gacttgaaga accctgactt tgtttctgca aaggcacctg catgtgtctg tgttcgtgta      3360
     ggcataatgt gaggaggtgg ggagaccacc ccacccccat gtccaccatg accctcttcc      3420
     cacgctgacc tgtgctccct ccccaaa                                          3447
//


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