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EBI Dbfetch

ID   AJ276687; SV 1; linear; genomic DNA; STD; HUM; 691 BP.
XX
AC   AJ276687;
XX
DT   17-MAR-2000 (Rel. 63, Created)
DT   14-NOV-2006 (Rel. 89, Last updated, Version 3)
XX
DE   Homo sapiens partial ABO transferase gene for A transferase, exon 7, A502
DE   variant
XX
KW   A transferase; ABO gene.
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   1-691
RA   Blasczyk R.;
RT   ;
RL   Submitted (16-MAR-2000) to the EMBL/GenBank/DDBJ databases.
RL   Blasczyk R., Department of Transfusion Medicine, Hannover Medical School,
RL   Carl-Neuberg-Str. 1, Hannover, 30625, GERMANY.
XX
RN   [2]
RA   Hallensleben M., Seltsam A., Eiz-Vesper B., Salama A., Blasczyk R.;
RT   "A new amino acid substitution GLY168ARG of the A transferase uncovers this
RT   molecular region as crucial for enzyme efficiency";
RL   Unpublished.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..691
FT                   /organism="Homo sapiens"
FT                   /chromosome="9"
FT                   /map="9q34.1-2"
FT                   /isolate="KS 100157, MHH 998837"
FT                   /mol_type="genomic DNA"
FT                   /country="Germany"
FT                   /sex="female"
FT                   /cell_type="blood leukocytes"
FT                   /germline
FT                   /db_xref="taxon:9606"
FT   CDS             <1..691
FT                   /codon_start=2
FT                   /gene="ABO"
FT                   /product="A Transferase"
FT                   /function="ABO glycosyltransferase"
FT                   /note="allele A502"
FT                   /db_xref="GOA:Q9NY02"
FT                   /db_xref="HGNC:79"
FT                   /db_xref="HSSP:1LZ0"
FT                   /db_xref="InterPro:IPR005076"
FT                   /db_xref="UniProtKB/TrEMBL:Q9NY02"
FT                   /protein_id="CAB81777.1"
FT                   /translation="YVAFLKLFLETAEKHFMVGHRVHYYVFTDQPAAVPRVTLGTGGQL
FT                   SVLEVRAYKRWQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLF
FT                   GTLHPGFYGSSREAFTYERRPQSQAYIPKDEGNFYYLGGFFGGSVQEVQRLTRACHQAM
FT                   MVDQANGIEAVWHDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPAVLRKLRFTAVPKN
FT                   HQAVRNP"
FT   exon            1..691
FT                   /gene="ABO Transferase"
FT                   /number=7
XX
SQ   Sequence 691 BP; 123 A; 218 C; 230 G; 120 T; 0 other;
     atacgtggct ttcctgaagc tgttcctgga gacggcggag aagcacttca tggtgggcca        60
     ccgtgtccac tactatgtct tcaccgacca gccggccgcg gtgccccgcg tgacgctggg       120
     gaccggtggg cagctgtcag tgctggaggt gcgcgcctac aagcgctggc aggacgtgtc       180
     catgcgccgc atggagatga tcagtgactt ctgcgagcgg cgcttcctca gcgaggtgga       240
     ttacctggtg tgcgtggacg tggacatgga gttccgcgac cacgtgggcg tggagatcct       300
     gactccgctg tttggcaccc tgcaccccgg cttctacgga agcagccggg aggccttcac       360
     ctacgagcgc cggccccagt cccaggccta catccccaag gacgagggca atttctacta       420
     cctggggggg ttcttcgggg ggtcggtgca agaggtgcag cggctcacca gggcctgcca       480
     ccaggccatg atggtcgacc aggccaacgg catcgaggcc gtgtggcacg acgagagcca       540
     cctgaacaag tacctgctgc gccacaaacc caccaaggtg ctctcccccg agtacttgtg       600
     ggaccagcag ctgctgggct ggcccgccgt cctgaggaag ctgaggttca ctgcggtgcc       660
     caagaaccac caggcggtcc ggaacccgtg a                                      691
//


  
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