PMID: 21996082

Shuker N, Bouamar R, Weimar W, van Schaik RH, van Gelder T, Hesselink DA
ATP-binding cassette transporters as pharmacogenetic biomarkers for kidney transplantation.
Clin Chim Acta. 2012 Sep 8;413(17-18):1326-37. Epub 2011 Oct 5., [PubMed]
Sentences
No. Mutations Sentence Comment
867 ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 21996082:867:139
status: NEW
view ABCC2 p.Val417Ile details
 The following ABCC2 SNPs are the most frequent: -24CNT (located in the 5'-upstream promoter region), a G to A transition at position 1249 (Val to Ile at codon 417) within exon 10, and a silent C to T transition at position 3972 in exon 28. Login to comment 870 ABCC2 p.Arg768Trp
X
ABCC2 p.Arg768Trp 21996082:870:42
status: NEW
view ABCC2 p.Arg768Trp details
ABCC2 p.Ser789Phe
X
ABCC2 p.Ser789Phe 21996082:870:63
status: NEW
view ABCC2 p.Ser789Phe details
 Several other ABCC2 SNPs such as 2302CNT (Arg768Trp), 2366CNT (Ser789Phe; both in exon 18), and the 4348GNA (Ala1450Th; in exon 31) were not found in this population whereas their allele frequency in an Asian population was about 1% [8,48,49]. Login to comment