|Name||ALFRED UID||Locus Symbol||Chromosome||Band Position|
|Huntingtin (Huntington Disease)||LO000383O||HD||4||4p16.3|
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
|dbSNP rs# |
(Navigates to dbSNP
|del2642 polymorphism||   ||8|
|(CAG)n repeat||   ||9|
© 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