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
rs1042522(Arg72Pro)SI018437XTumor protein p53 (Li-Fraumeni syndrome)TP53
FstAvg Het# Populations Typed
0.0760.45946
Synonyms: rs1042522 ;
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 C/G SNP in the coding region of TP53 gene. This SNP results in non-synonymous substitution Proline(CCC) -> Arginine(CGC) at aminoacid position 72 of the gene.
Ancestral Allele:  C
Alleles:
Allele NameAllele SymbolDescription
CPro5'- aatgccagaggctgctccc CCC gtggcccctgcaccagcag -3'
GArg5'- aatgccagaggctgctccc CGC gtggcccctgcaccagcag -3'

References:
- Shi H, Tan SJ, Zhong H, Hu W, Levine A, Xiao CJ, Peng Y, Qi XB, Shou WH, Ma RL, Li Y, Su B, Lu X "Winter temperature and UV are tightly linked to genetic changes in the p53 tumor suppressor pathway in Eastern Asia". Am J Hum Genet. 84:534-41.. (2009) 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