ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
rs4986893SI015422OCytochrome P450, family 2, subfamily C, polypeptide 19CYP2C19
FstAvg Het# Populations Typed
0.0540.0259
Synonyms: rs4986893 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  This is a A/G SNP in the coding region of CYP2C19 gene. This SNP results in non-synonymous substitution Tryptophan (TGG) -> Termination(TGA) at aminoacid position 212 of the gene.
Alleles:
Allele NameAllele SymbolDescription
TermA5'- ggattgtaagcaccccc TGA atccaggtaaggccaagtt -3'
TrpG5'- ggattgtaagcaccccc TGGatccaggtaaggccaagt -3'

References:
- Chen L, Qin S, Xie J, Tang J, Yang L, Shen W, Zhao X, Du J, He G, Feng G, He L, Xing Q "Genetic polymorphism analysis of CYP2C19 in Chinese Han populations from different geographic areas of mainland China". Pharmacogenomics. 9:691-702.. (2008)
Online citation.


© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan