ALFRED detailed record information
Synonyms: L374F ; rs16891982 ;
|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 C/G SNP in exon 5 of the SLC45A2 gene. This SNP results in the non-synonymous substitution of Leucine (TTG) -> Phenylalanine (TTC) at aminoacid position 374 of the gene. The derived allele C=Phe on the coding/reverse strand, is associated with light skin color and is common only in populations of European ancestry. This SNP is commonly included in panels of ancestry informative SNPs and in phenotype informative markers.
Ancestral Allele: C (on the + strand)
|Allele Name||Allele Symbol||Description|
|C||C||5' - gaggttggatgttggggc TTC tgcatcaactccgtgttttc - 3'|
|G||G||5' - gaggttggatgttggggc TTG tgcatcaactccgtgttttc - 3'|
- Yuasa I, Umetsu K, Watanabe G, Nakamura H, Endoh M, Irizawa Y. "MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids". Int J Legal Med. 118:364-366. (2004) 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