|Name||ALFRED UID||Locus Name||Locus Symbol|
|G/A SNP (Gly180Arg)||SI001630K||ATP-binding cassette, sub-family C (CFTR/MRP), member 11||ABCC11|
|Fst||Avg Het||# Populations Typed|
External Resources: dbSNP rs # Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This is a G/A SNP in the coding region of ABCC11 gene. This SNP results in non-synonymous change Glycine(GGG) -> Arginine(AGG) at aminoacid position 180 of the gene.
This SNP determines the earwax type (PMID: 16444273). According to their study dry earwax is frequent in East Asians, whereas wet earwax is common in other populations. Allele A is associated with dry earwax type. This SNP is the first example of DNA polymorphism determing a visible genetic trait.
C__25999969_20 is an ABI Assays-on-DemandTM SNP Genotyping Assay ID. This assay types the reverse strand and the corresponding alleles are G and A respectively. The alleles on the forward strand are C and T.
|Allele Name||Allele Symbol||Description|
|C||C||5' - ctcaccaagtctgccacttactggcc C gagtacactggcaatgcag - 3'|
|T||T||5' - ctcaccaagtctgccacttactggcc T gagtacactggcaatgcag - 3'|
© 2018 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