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

Name	ALFRED UID	Locus Name	Locus Symbol
rs12059562	SI663978N	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	IKBKE

Fst	Avg Het	# Populations Typed
0.192	0.188	18

Synonyms: rs12059562 ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources: dbSNP rs# Record
References: See References
Polymorphism Description: This is a C/T SNP in the coding region of IKBKE gene. This SNP results in missense substitution Alanine(GCG) -> Valine(GTG) at aminoacid position 602 of the gene.
Alleles:

Allele Name	Allele Symbol	Description
C (Ala)	C	5'- gtgcgtgcagaagtatcaa GC G tccttagtcacacacggca -3'
T (val)	T	5'- gtgcgtgcagaagtatcaa GT G tccttagtcacacacggca -3'

References:
- Bulbul O, Filoglu G, Altuncul H, Aradas AF, Ruiz Y, Fondevila M, Phillips C, Carracedo A, Kriegel AK, Schneider PM "A SNP multiplex for the simulataneous prediction of biogeographic ancestry and pigmentaion type". Forensic science International:Genetics Supplement Series 3 e500-501. (2011)

© 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