ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED detailed record information

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
Leu374PheSI003963VSolute carrier family 45, member 2SLC45A2
FstAvg Het# Populations Typed
Synonyms: L374F ; rs16891982 ;
Frequency Display Formats:     
Estimated Heterozygosity: 
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.

Note: The alleles and the flanking sequence are those on the forward strand and the gene is on the reverse strand.

Note: For this symmetrical substitution the SNPforID browser and Snipper use the SNaPshot allele designation which is on the reverse strand. The flanking sequence and the allele frequencies in ALFRED corresponds to the forward strand.

Ancestral Allele:  C (on the + strand)
Allele NameAllele SymbolDescription
CC5' -ggaaaacacggagttgatgca C AA gccccaacatccaacctcg - 3'
GG5' -ggaaaacacggagttgatgca G AA gccccaacatccaacctcg - 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.

© 2019 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