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
C/T +491SI000177PAdrenergic, beta-2-, receptor, surfaceADRB2
FstAvg Het# Populations Typed
0.0050.024
Synonyms: rs1800888 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: GenBank sequence Record  GenBank sequence Record  dbSNP rs# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  Thr164 to Ile polymorphism
Alleles:
Allele NameAllele SymbolDescription
CCACC encodes Thr
TTATC encodes Ile

References:
- Chilver EM. "A Bamileke community in Bali-Nyonga: a note on the Bawok". African Studies 23:121-7. (1964)

- Green SA, Turki J, Innis M, Liggett SB. "Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties". Biochemistry 33:9414-9. (1994) Online citation.

- Reihsaus E, Innis M, MacIntyre N, Liggett SB. "Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects". Am. J. Respir. Cell Mol. Biol. 8:334-9. (1993) Online citation.

- Rupert JL, Devine DV, Hochachka PW. "Frequencies of alleles associated with the increased risk of cardiovascular disease in high altitude natives". J. Mol. Cell. Cardio. 31:A38. (1999)

- Rupert JL, Monsalve MV, Devine DV, Hochachka PW. "Beta2-adrenergic receptor allele frequencies in the Quechua, a high altitude native population". Ann. Hum. Genet. 64:135-43. (2000) 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