ALFRED detailed record information
Synonyms: rs17878459 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: dbSNP rs# Record
References: See References
Polymorphism Description: This is a C/G SNP in the coding region of CYP2C19 gene. This SNP results in non-synonymous substitution Glutamic acid(GAG) -> Aspartic acid(GAC) at aminoacid position 92 of the gene.
|Allele Name||Allele Symbol||Description|
|Asp (D)||C||5'- gccctgattgatcttgga GA C gagttttctggaagaggcc -3'|
|Glu (E)||G||5'- gccctgattgatcttgga GA G gagttttctggaagaggcc -3'|
- Matimba A, Del-Favero J, Van Broeckhoven C, Masimirembwa C "Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects". Hum Genomics. 3:169-90. (2009) 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