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

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Huntingtin (Huntington Disease)LO000383OHD44p16.3
Synonyms: IT15 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence   GenBank sequence   RefSeq mRNA   GeneReviews disease description   NCBI Genes and Disease disease description   PharmGKB Gene Information   
References: See References
Locus Description: The gene responsible for HD (IT15) has been localized to 4p16.3, and the disease-associated mutation has been identified as an expanded and unstable (CAG)n repeat sequence located at the 5' end of the gene (Huntington's Disease Collaborative Group 1993).
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
del2642 polymorphism   8
(CAG)n repeat   9

References:
- Leone O, Muglia M, Gabriele AL, Annesi G, Conforti FL, Imbrogno E, Imbrogno L, Brancati C. "Analysis of the (CAG)n repeat at the IT15 locus in a population from Calabria (southern Italy)". Hum. Biol. 69:653-62. (1997) Online citation.

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© 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