|Name||ALFRED UID||Locus Name||Locus Symbol|
|Leu374Phe||SI003963V||Solute carrier family 45, member 2||SLC45A2|
|Fst||Avg Het||# Populations Typed|
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.
C (on the + strand)
|Allele Name||Allele Symbol||Description|
|C||C||5' -ggaaaacacggagttgatgca C AA gccccaacatccaacctcg - 3'|
|G||G||5' -ggaaaacacggagttgatgca G AA gccccaacatccaacctcg - 3'|
© 2018 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