ABCC1 p.Asp1501Gly
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PMID: 17329911
[PubMed]
Fukushima-Uesaka H et al: "Genetic variations and haplotype structures of the ABC transporter gene ABCC1 in a Japanese population."
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11
Of these, eight novel nonsynonymous variations, 726GÀT (Trp242Cys), 1199TÀC (Ile400Thr), 1967GÀC (Ser656Thr), 2530GÀA (Gly844Ser), 3490GÀA (Val1164Ile), 3550GÀA (Glu1184Lys), 3901CÀT (Arg1301Cys), and 4502AÀG (Asp1501Gly), were detected with an allele frequency of 0.003.
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ABCC1 p.Asp1501Gly 17329911:11:250
status: NEW62 Eight novel nonsynonymous variations, 726GÀT (Trp242Cys), 1199TÀC (Ile400Thr), 1967GÀC (Ser656Thr), 2530GÀA (Gly844Ser), 3490GÀA (Val1164Ile), 3550GÀA (Glu1184Lys), 3901CÀT (Arg1301Cys), and 4502AÀG (Asp1501Gly), were found heterozygously in dierent subjects with an allele frequency of 0.003.
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ABCC1 p.Asp1501Gly 17329911:62:240
status: NEW66 Arg1301Cys was located 26 residues upstream of the Walker A motif, while and Asp1501Gly was 47 residues downstream of the Walker B motif, in the nucleotide binding domain 2 in the C-terminal.
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ABCC1 p.Asp1501Gly 17329911:66:77
status: NEW125 Regarding Block 4 (Table 6), the haplotype containing the nonsynonymous variation 4502AÀG (Asp1501Gly) was designated as *2.
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ABCC1 p.Asp1501Gly 17329911:125:96
status: NEW137 The *2 marker, 4502AÀG (Asp1501Gly), may also be included.
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ABCC1 p.Asp1501Gly 17329911:137:29
status: NEW