PMID: 18509327

Baker SD, Verweij J, Cusatis GA, van Schaik RH, Marsh S, Orwick SJ, Franke RM, Hu S, Schuetz EG, Lamba V, Messersmith WA, Wolff AC, Carducci MA, Sparreboom A
Pharmacogenetic pathway analysis of docetaxel elimination.
Clin Pharmacol Ther. 2009 Feb;85(2):155-63. Epub 2008 May 28., [PubMed]
Sentences
No. Mutations Sentence Comment
42 ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 18509327:42:1055
status: NEW
view ABCC2 p.Val417Ile details
ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 18509327:42:1223
status: NEW
view ABCC2 p.Cys1515Tyr details
 Visual genotyping of the CYP3A locus We next used the Centre d`Etude du Polymorphisme Humain (CEPH) HapMap samples (http://www.cephb.fr/cephdb/) Table 2  Description and allele frequencies of the studied variants Allele frequencya Gene (allele)b dbSNP ID Region Effectc p q SLCO1B3   334T>G(*2) rs4149117 Exon3 S112A 0.147 0.853   439A>G(*3) N/A Exon4 T147A 0.995 0.005   699G>A(*4) rs7311358 Exon6 M233I 0.159 0.841   767G>C(*5) N/A Exon7 G256A 0.811 0.189   1559A>C(*6) N/A Exon11 H520P 1.00 0   1679T>C(*7) rs12299012 Exon11 V560A 0.984 0.016 CYP3A4   -392A>G(*1B) rs2740574 5'-Flanking - 0.951 0.049 CYP3A5   6986A>G(*3C) rs776746 Intron3 Frameshift 0.076 0.924 ABCB1   1236C>T(*8) rs1128503 Exon12 G412G 0.539 0.461   2677G>T/A(*7) rs2032582 Exon21 A893S/T 0.556 0.422/0.022   3435C>T(*6) rs1045642 Exon26 I1145I 0.478 0.522 ABCC2   -1019A>G rs2804402 5'-Flanking - 0.614 0.386   -24C>T rs717620 5'-UTR - 0.815 0.185   1249G>A rs2273697 Exon 10 V417I 0.789 0.211   IVS26 -34T>C rs8187698 Intron 26 Exon 26 0.946 0.054   3972C>T rs3740066 Exon28 I1324I 0.647 0.353   4544G>Ad rs8187710 Exon32 C1515Y 0.967 0.033 UTR, untranslated region; dbSNP, single-nucleotide polymorphism database. Login to comment