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
Thr329ThrSI003962USolute carrier family 45, member 2SLC45A2
FstAvg Het# Populations Typed
0.1270.1862
Synonyms: rs2287949 ; T329T ;
Frequency Display Formats:     
Estimated Heterozygosity: 
External Resources: dbSNP rs # Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  This is A/G SNP in exon 4 of SLC45A2 gene. This SNP results in synonymous substitution Threonine (ACA) -> Threonine (ACG) at aminoacid position 329 of the gene.
Ancestral Allele:  C
Alleles:
Allele NameAllele SymbolDescription
AA5' - agccacctcattggatgg ACA gccttcctgtccaacatgct 3'
GG5' - agccacctcattggatgg ACG gccttcctgtccaacatgct 3'

References:
- 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