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
del2642 polymorphism	SI001376R	Huntingtin (Huntington Disease)	HD

Fst	Avg Het	# Populations Typed
0.012	0.181	8

Synonyms:
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources:
References: See References
Polymorphism Description: This polymorphism in the HD gene is due to deletion of one of four consecutive GAG codons (Glu) at positions 2642-2645.This polymorphism is commonly called delta 2642.This polymorphism is intragenic and found approximately 150 kb centromeric to the HD mutation.This deletion is known to be rare in normal chromosomes but overrepresented in HD chromosomes. Alleles with or without del2642 are designated del+ and del- respectively.
Alleles:

Allele Name	Allele Symbol	Description
del+	del+
del-	del-

References:
- Rubinsztein DC, Leggo J, Goodburn S, Barton DE, Ferguson-Smith MA. "Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype.". Hum Mol Genet. 4:203-6. (1995) 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