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
Arg230Cys (rs9282541)SI663760CATP-binding cassette, sub-family A (ABC1), member 1ABCA1
FstAvg Het# Populations Typed
0.140.09734
Synonyms:
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs# Record  
References: See References
Polymorphism Description:  This is a C/T SNP in the coding region of ABCA1 gene. This SNP results in non-synonymous substitution Arginine(CGT) -> Cysteine(TGT) at aminoacid position 230 of the gene.
Alleles:
Allele NameAllele SymbolDescription
C (Arg)C (R)5'-ctgcagcagagcgagtactt CGT tccaacatggacatcctg -3'
T (Cys)T (C)5'-ctgcagcagagcgagtactt TGT tccaacatggacatcctg -3'

References:
- Acuņa-Alonzo V et al. "A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans". Hum Mol Genet 19:2877-85. (2010) 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