PMID: 15861033

Gwee PC, Tang K, Sew PH, Lee EJ, Chong SS, Lee CG
Strong linkage disequilibrium at the nucleotide analogue transporter ABCC5 gene locus.
Pharmacogenet Genomics. 2005 Feb;15(2):91-104., [PubMed]
Sentences
No. Mutations Sentence Comment
55 ABCC5 p.Thr1383Asn
X
ABCC5 p.Thr1383Asn 15861033:55:693
status: NEW
view ABCC5 p.Thr1383Asn details
 92 Pharmacogenetics and Genomics 2005, Vol 15 No 2 Fig. 1 0 kb 10 kb 20 kb 30 kb 40 kb 50 kb 60 kb 0 kb 115 bp 5723 bp 1kb 2 kb 3 kb 4 kb 5 kb 6 kb 70 kb 80 kb 90 kb 100 kb * * * * * * * * * * * * * * * * Transcription start site 3' Flanking region5' Flanking region Genomic DNA Exons 1 2 34 5 678 910 11 12 1314 15 16 17 18192021222324 25 26 27 28 29 30 + 3'UTR cDNA ATG Translation start site 1 2 3 4 5 6 7 8 10 11 13 15 16 18 1920 212223 26 28 Exon Intron From sequencing From published reports From public databases Polymorphic in at least one ethnic population Used for haplotype and LD analyses e8 1145A > G (Gln382Gln) e12 1782A > C (Cys594Cys) e25 3606C > A (Tyr1202*) e29 4148C > A (Thr1383Asn) e25 3624C > A (Leu1208Leu) e9 1185C > T (Ala385Ala) e9 1200C > T (Ser400Ser) e30 5557A>G e30 5159C>T e30 4896G>A i-1-1990G>A i-1-1821T>C i-1-1679T>A i-1-1205C>T i-1-889T>C i-1-793C>A i-1-177C>T i-1-115A>C i1628G>C i11834C>T i27980C>T i5374C>T e81145A>G e91185C>T e91200C>T e121782C>T e253606C>A e253624C>T e294148C>A e304896G>A e305159C>T e305557A>G i306272A>G i307161G>A Distribution of single nucleotide polymorphisms (SNPs) across the ABCC5 gene. Login to comment