ALFRED detailed record information
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
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.
|Allele Name||Allele Symbol||Description|
|C (Arg)||C (R)||5'-ctgcagcagagcgagtactt CGT tccaacatggacatcctg -3'|
|T (Cys)||T (C)||5'-ctgcagcagagcgagtactt TGT tccaacatggacatcctg -3'|
- 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