ABCC9 p.Cys24Thr
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PMID: 16815813
[PubMed]
Choudhuri S et al: "Structure, function, expression, genomic organization, and single nucleotide polymorphisms of human ABCB1 (MDR1), ABCC (MRP), and ABCG2 (BCRP) efflux transporters."
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314
Six types of SNPs were identified, of which C24T (promoter), a missense mutation G1249A (Val417Ile), and a silent mutation C3972 (Ile1324) were frequently observed with an allelic frequency of 18.8%, 12.5%, and 21.9%, respectively.
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ABCC9 p.Cys24Thr 16815813:314:44
status: NEW343 They detected two novel mutations, C298T and C3928T, and two SNPs, C3972T and C24T (SNPs are mutations that occur in at least 1% of the population).
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ABCC9 p.Cys24Thr 16815813:343:78
status: NEW