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

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Androgen receptor	LO000600G	AR	X	q11.2-q12

Synonyms: KD ; AIS ; TFM ; DHTR ; SBMA ; NR3C4 ; SMAX1 ; HUMARA ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM locus description Unigene Genbank mRNA sequence Genbank Genomic contig sequence PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains. Migeon et al. (1981,PubMed ID:6947723) localised the androgen receptor gene between Xq13 and Xp11 by somatic cell hybridization. Wieacker et al. (1985), localized the gene between Xcen and Xq13 by RFLP. The coding sequence of the gene is divided into eight coding exons and spans a minimum of 54 kilobases. Constitutional mutations in the androgen receptor gene (AR ) impair androgen - dependent male sexual differentiation to various degrees . Somatic mutations in the AR have been found in metastatic prostate cancer. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease).
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-Position	# Populations typed
rs12396249	rs12396249	66777066	50
rs5919393	rs5919393	66825357	50
rs6624304	rs6624304	66875756	50
rs1337080	rs1337080	66878919	50
rs5919411	rs5919411	66918713	50
rs12014709	rs12014709	66938466	50
rs5031002	rs5031002	66942625	50
AR (CAG) _n trinucleotide repeat			2

References:
- La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH "Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy". Nature. 352:77-9. (1991) Online citation.

- Tilley WD, Marcelli M, Wilson JD, McPhaul MJ "Characterization and expression of a cDNA encoding the human androgen receptor". Proc Natl Acad Sci U S A. 86:327-31. (1989) 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