|Name||ALFRED UID||Locus Name||Locus Symbol|
|Val370Ala||SI663326A||Ectodysplasin A receptor||EDAR|
|Fst||Avg Het||# Populations Typed|
External Resources: PharmGKB Variant Information Record
References: See References
Polymorphism Description: This is a A/G 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.
Note: The alleles and the flanking sequence are those on the forward strand and the gene is on the reverse strand.
|Allele Name||Allele Symbol||Description|
|A||A||5'- aggtggcgccacgttttcac AAC agccttctcagagttgtacgtgga -3'|
|G||G||5'- aggtggcgccacgttttcac AGC agccttctcagagttgtacgtgga -3'|
- 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.
© 2019 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