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
rs55752064(Leu17pro)SI663710XCytochrome P450, family 2, subfamily C, polypeptide 19CYP2C19
Synonyms: rs55752064 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs# Record  
References: See References
Polymorphism Description:  This is a C/T SNP in the coding region of CYP2C19 gene. This SNP results in non-synonymous substitution CTT (Leucine) -> CCT(Proline) at aminoacid position 17 of the gene.
Alleles:
Allele NameAllele SymbolDescription
C (Pro)C5'- tctctcatgtttgcttctc CCT tcamtctggagacagagct -3'
T (Leu)T5'- tctctcatgtttgcttctc CTT tcamtctggagacagagct -3'

References:
- Shi Y, Xiang P, Li L, Shen M "Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population". Forensic Sci Int. Nov 9, Epub, ahead of print (2010) 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