ALFRED detailed record information
Synonyms: rs1426654 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
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 SLC24A5 gene. This SNP results in non-synonymous substitution Alanine(GCA) -> Threonine(ACA) at aminoacid position 111 of the gene. The derived allele (T= Thr) has been associated with light skin pigmentation in Europe and is common in Europe, Southwest Asia, and Central Asia. This SNP has shown evidence of natural selection. This SNP is commonly included in panels of ancestry informative SNPs and in phenotype informative markers.
Ancestral Allele: G
|Allele Name||Allele Symbol||Description|
|A||A||5'- tgtctcaggatgttgcaggc ACA actttcatggcagcgggc - 3'|
|G||G||5'- tgtctcaggatgttgcaggc GCA actttcatggcagcgggc - 3'|
- Phillips C, Salas A, Sánchez JJ, Fondevila M, Gómez-Tato A, Álvarez-Dios J, Calaza M, Casares de Cal M , Ballard D, Lareu MV, Carracedo A - The SNPforID Consortium "Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs". Forensic Science International: Genetics 1:273-280. (2007) Online citation.
© 2014 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