|Name||ALFRED UID||Locus Name||Locus Symbol|
|AR (CAG) n trinucleotide repeat||SI001213H||Androgen receptor||AR|
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).
|Allele Name||Allele Symbol||Description|
- 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