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

NameALFRED UIDLocus NameLocus Symbol
(CAG)n repeatSI000586THuntingtin (Huntington Disease)HD
Synonyms:
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: 
References: See References
Polymorphism Description:  The (CAG)n repeat sequence is located at the 5' end of the gene. It's highly polymorphic, varying between 7 and 39 repeats within the normal population. Unstable and expanded (CAG)n repeat causes Huntington's disease.
Alleles:
Allele NameAllele SymbolDescription
1010The number of repeats: 10
1111The number of repeats: 11
1212The number of repeats: 12
1313The number of repeats: 13
1414The number of repeats: 14
1515The number of repeats: 15
1616The number of repeats: 16
1717The number of repeats: 17
1818The number of repeats: 18
1919The number of repeats: 19
2020The number of repeats: 20
2121The number of repeats: 21
2222The number of repeats: 22
2323The number of repeats: 23
2424The number of repeats: 24
2525The number of repeats: 25
2626The number of repeats: 26
2727The number of repeats: 27
2828The number of repeats: 28
2929The number of repeats: 29
3030The number of repeats: 30
3131The number of repeats: 31
3232The number of repeats: 32
3434The number of repeats: 34
3636The number of repeats: 36
88The number of repeats: 8
99The number of repeats: 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.

© 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