The Singapore Human Mutation
And Polymorphism Database

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<< Gene or Locus List >>

ABCB1
OMIM: *171050
Gene Name: ATP-binding cassette, sub-family B (MDR/TAP), member 1

encodes multidrug transporter MDR1; member of ATP-binding cassette (ABC) superfamily; key pharmacological barrier limiting accessibility of drugs to various critical target tissues/cells

4 mutations/polymorphisms recorded....
[1] -129T>C at exon 1 : Paper 1
[2] 1236C>T at exon 12 : Paper 1
[3] 2677G>T/A at exon 21 : Paper 1
[4] 3435C>T at exon 26 : Paper 1


Mutation/Polymorphism (4): 3435C>T at exon 26

Allele or Genotype available
Allele 1 : C
Allele 2 : T


Frequency in Sample
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 na Chinese na 0.596
Allele 2 na Chinese na 0.404
Allele 1 na Indian na 0.397
Allele 2 na Indian na 0.603
Allele 1 na Malay na 0.63
Allele 2 na Malay na 0.37

Reference (PUBMED Accession No.): 12172212
Pharmacogenetics. 2002 Aug;12(6):437-50. Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Tang K, Ngoi SM, Gwee PC, Chua JM, Lee EJ, Chong SS, Lee CG.


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