ALFRED detailed record information
Synonyms: rs3827760 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: PharmGKB Variant Information Record
References: See References
Polymorphism Description: This is a C/T SNP in the coding region of EDAR gene. This SNP results in non-synonymous substitution Valine (GTT) -> Alanine (GCT) at aminoacid position 370 of the gene.
The 1540C allele of this polymorphism has been reported to be associated with Asian-specific hair thickness (Fujimoto A etal). According to their study the derived allele, 1540C, increased in frequency in Asian populations by recent positive selection.
|Allele Name||Allele Symbol||Description|
|C||C||5'- gtacaactctgagaaggct GCT gtgaaaacgtggcgccacc -3'|
|T||T||5'- gtacaactctgagaaggct GTT gtgaaaacgtggcgccacc -3'|
- Bryk J, Hardouin E, Pugach I, Hughes D, Strotmann R, Stoneking M, Myles S "Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation". Plos One 3:e2209. (2008) Online citation.
- Fujimoto A, Kimura R, Ohashi J, Omi K, Yuliwulandari R, Batubara L, Mustofa MS, Samakkarn U, Settheetham-Ishida W, Ishida T, Morishita Y, Furusawa T, Nakazawa M, Ohtsuka R, Tokunaga K. "A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness". Hum Mol Genet. 17:835-43. (2008) 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