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
rs2289178SI663487Icentrosomal protein 152kDaCEP152
FstAvg Het# Populations Typed
0.1090.14611
Synonyms: rs2289178 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs# Record  
References: See References
Polymorphism Description:  This is a A/C SNP in the coding region of CEP152 gene. This SNP results in non-synonymouos substitution Serine(AGC) -> Isoleucine(ATC) at aminoacid position 793 of the gene.
Alleles:
Allele NameAllele SymbolDescription
Ile (I)A5'- gttacttggtcagtttg GAT gccacaatctaaggtc -3'
Ser (S)C5'- gttacttggtcagtttg GCT gccacaatctaaggtc -3'

References:
- Yuasa I, Umetsu K, Matsusue A, Nishimukai H, Harihara S, Fukumori Y, Saitou N, Jin F, Chattopadhyay PK, Henke L, Henke J. "A Japanese-specific allele in the GALNT11 gene". Leg Med (Tokyo). 12:208-11. (2010) 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