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
Arg210Term	SI001240H	Fucosyltransferase 2 (secretor status included)	FUT2

Fst	Avg Het	# Populations Typed
0.086	0.019	16

Synonyms: C628T ; rs1800029 ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources: HGMD Record dbSNP rs # Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This polymorphism is due to a nonsense mutation C->T which results in Arg -> stop at codon 210 (bp 628) of FUT2 gene.
Alleles:

Allele Name	Allele Symbol	Description
Codon 210 Arg	C	5'-agggggtggtggccgaccgg CGA tacctacagcaggccctg-3'
Codon 210 Term	T	5'-agggggtggtggccgaccgg TGA tacctacagcaggccctg-3'

References:
- Koda Y, Soejima M, Liu Y, Kimura H. "Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency". Am J Hum Genet. 59:343-350. (1996) 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