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
AR (CAG) n trinucleotide repeatSI001213HAndrogen receptorAR
Synonyms:
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources:  HGMD Record  Androgen Receptor Gene mutation database Record  
References: See References
Polymorphism Description:  The HUMARA CAG repeat polymorphism is located in the coding region of exon 1 of human androgen receptor gene which exhibits an X-linked codominant inheritance.The polymorphism of this repeat is reported to be associated with some human diseases which are detailed in the review by Choong and Wilson (PMID: 9845666).
Alleles:
Allele NameAllele SymbolDescription
1111
1212
1313
1515
1616
1717
1818
1919
2020
2121
2222
2323
2424
2525
2626
2727
2828
2929
3030
3131
3232
3333
3434
3939

References:
- Choong CS, Wilson EM "Trinucleotide repeats in the human androgen receptor: a molecular basis for disease.". J Mol Endocrinol. 21:235-57. (1998)
Online citation.

- Pelotti S, Maiolini E, Bini C, Rimondi S, Luiselli D, Pappalardo G "Automated fluorescence analysis of CAG repeats at the human androgen receptor gene (HUMARA): evaluation of polymorphism in an Italian sample and report of a new allele.". Am J Forensic Med Pathol. 22:55-7. (2001) Online citation.

- Sleddens HF, Oostra BA, Brinkmann AO, Trapman J. "Trinucleotide repeat polymorphism in the androgen receptor gene (AR)". Nucleic Acids Res. 20:1427. (1992) 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