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EBI DbfetchID 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substitution GLY168ARG of the A transferase uncovers this RT molecular region as crucial for enzyme efficiency"; RL Unpublished.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 // ![]() |