ALFRED detailed record information
Synonyms: rs1693482 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: dbSNP ss# Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: Polymorphism due to a G->A subst. in codon 272, resulting in a Arg->Gln change. Though an amino acid substitution, this site has not been extensively studied in the literature. It has been shown to be in strong linkage disequilibrium with the exon 8 Ile349Val polymorphism.
|Allele Name||Allele Symbol||Description|
|codon 272Arg||G||5'-gaagtcatcggt C G G cttgacaccatg-3'|
|codon 272Gln||A||5'-gaagtcatcggt C A G cttgacaccatg-3'|
- Osier MV. "Genetic Variation and Linkage Disequilibrium in the Human Alcohol Dehydrogenase Genes". Dissertation, Yale University (2002)
© 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