ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED detailed record information

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
Exon29 del27SI001668VATP-binding cassette, sub-family C (CFTR/MRP), member 11ABCC11
FstAvg Het# Populations Typed
0.1010.01727
Synonyms:
Frequency Display Formats:     
Estimated Heterozygosity: 
External Resources: GenBank Complete Sequence Record  
References: See References
Polymorphism Description:  This polymorphism is due to 27-bp deletion (3939-3965) in exon29 of ABCC11 gene. The exon numbering is from analysis of draft sequence of chromosome 16 GenBank Accession No.AC00760 (PMID:11688999). This polymorphism is downstream of the G/A site.

This polymorphism is associated with determination of ear wax type.
Alleles:
Allele NameAllele SymbolDescription
27-bp del absentdel-
27-bp del presentdel+

References:
- Yabuuchi H, Shimizu H, Takayanagi S, Ishikawa T. "Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.". Biochem Biophys Res Commun. 288:933-9. (2001)
Online citation.

- Yoshiura KI et al. "A SNP in the ABCC11 gene is the determinant of human earwax type.". Nat Genet. 38:324-330. (2006) 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