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EBIDatabasesDatabase BrowsingDbfetch

EBI Dbfetch

ID   AF170889; SV 1; linear; genomic DNA; STD; HUM; 852 BP.
XX
AC   AF170889;
XX
DT   01-SEP-1999 (Rel. 60, Created)
DT   14-NOV-2006 (Rel. 89, Last updated, Version 3)
XX
DE   Homo sapiens Ael glycosyltransferase (ABO) gene, ABO-Ael allele, exon 7 and
DE   partial cds.
XX
KW   .
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   1-852
RX   DOI; 10.1006/bbrc.1995.2670
RX   PUBMED; 7488159.
RA   Olsson M.L., Thuresson B., Chester M.A.;
RT   "An Ael allele-specific nucleotide insertion at the blood group ABO locus
RT   and its detection using a sequence-specific polymerase chain reaction";
RL   Biochem. Biophys. Res. Commun. 216(2):642-647(1995).
XX
RN   [2]
RP   1-852
RA   Olsson M.L., Chester M.A.;
RT   ;
RL   Submitted (22-JUL-1999) to the EMBL/GenBank/DDBJ databases.
RL   Blood Center, University Hospital, Getingevagen 2, Lund S-221 85, Sweden
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..852
FT                   /organism="Homo sapiens"
FT                   /chromosome="9"
FT                   /map="9q34.1-q34.2"
FT                   /mol_type="genomic DNA"
FT                   /db_xref="taxon:9606"
FT   exon            51..852
FT                   /gene="ABO"
FT                   /number=7
FT   mRNA            <51..>852
FT                   /gene="ABO"
FT                   /product="Ael glycosyltransferase"
FT   CDS             <51..852
FT                   /codon_start=2
FT                   /gene="ABO"
FT                   /product="Ael glycosyltransferase"
FT                   /EC_number="2.4.1.40"
FT                   /note="N-acetylgalactosaminyltransferase; weakened form of
FT                   A transferase due to a guanidine insertion"
FT                   /db_xref="GOA:Q9UMY7"
FT                   /db_xref="HSSP:1R81"
FT                   /db_xref="InterPro:IPR005076"
FT                   /db_xref="UniProtKB/TrEMBL:Q9UMY7"
FT                   /protein_id="AAD51649.1"
FT                   /translation="YVAFLKLFLETAEKHFMVGHRVHYYVFTDQPAAVPRVTLGTGRQL
FT                   SVLEVRAYKRWQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLF
FT                   GTLHPGFYGSSREAFTYERRPQSQAYIPKDEGDFYYLGGVLRGVGARGAAAHQGLPPGH
FT                   DGRPGQRHRGRVARREPPEQVPAAPQTHQGALPRVLVGPAAAGLARRPEEAEVHCGAQE
FT                   PPGGPEPVSGCQGLWEGCRQPRPPPALGFSRTGKLCFLCPSCCE"
FT   variation       474..481
FT                   /gene="ABO"
FT                   /replace="ggggggg"
FT                   /note="location of g insertion present in this allele"
XX
SQ   Sequence 852 BP; 139 A; 278 C; 282 G; 153 T; 0 other;
     aggggtgcac ggccggcggc tcccccagcc cccgtccgcc tgccttgcag atacgtggct        60
     ttcctgaagc tgttcctgga gacggcggag aagcacttca tggtgggcca ccgtgtccac       120
     tactatgtct tcaccgacca gccggccgcg gtgccccgcg tgacgctggg gaccggtcgg       180
     cagctgtcag tgctggaggt gcgcgcctac aagcgctggc aggacgtgtc catgcgccgc       240
     atggagatga tcagtgactt ctgcgagcgg cgcttcctca gcgaggtgga ttacctggtg       300
     tgcgtggacg tggacatgga gttccgcgac cacgtgggcg tggagatcct gactccgctg       360
     ttcggcaccc tgcaccccgg cttctacgga agcagccggg aggccttcac ctacgagcgc       420
     cggccccagt cccaggccta catccccaag gacgagggcg atttctacta cctggggggg       480
     gttcttcggg gggtcggtgc aagaggtgca gcggctcacc agggcctgcc accaggccat       540
     gatggtcgac caggccaacg gcatcgaggc cgtgtggcac gacgagagcc acctgaacaa       600
     gtacctgctg cgccacaaac ccaccaaggt gctctccccc gagtacttgt gggaccagca       660
     gctgctgggc tggcccgccg tcctgaggaa gctgaggttc actgcggtgc ccaagaacca       720
     ccaggcggtc cggaacccgt gagcggctgc caggggctct gggagggctg ccggcagccc       780
     cgtccccctc ccgcccttgg ttttagcaga acgggtaaac tctgtttcct ttgtccgtcc       840
     tgttgtgagt aa                                                           852
//
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