ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
rs1800414 (His615Arg)SI018115QOculocutaneous albinism II (pink-eye dilution homolog, mouse)OCA2
FstAvg Het# Populations Typed
0.4640.09488
Synonyms: rs1800414 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
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 OCA2 gene. This SNP results in non-synonymous substitution Histidine(CAT) -> Arginine(CGT) at aminoacid position 615 of the gene.
Ancestral Allele:  A
Alleles:
Allele NameAllele SymbolDescription
Arg(R)G5'- tgtggtttctctcttacag CGT aggatatctgaygggattc -3'
His(H)A5'- tgtggtttctctcttacag CAT aggatatctgaygggatt -3'

References:
- Norton HL, Kittles RA, Parra E, McKeigue P, Mao X, Cheng K, Canfield VA, Bradley DG, McEvoy B, Shriver MD "Genetic evidence for the convergent evolution of light skin in Europeans and East Asians". Mol Biol Evol. 24:710-22. (2007) Online citation.

- Yuasa I, Umetsu K, Harihara S, Kido A, Miyoshi A, Saitou N, Dashnyam B, Jin F, Lucotte G, Chattopadhyay PK, Henke L, Henke J. "Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes". Biochem Genet. 45:535-42. (2007) 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