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

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
ATP-binding cassette, sub-family C (CFTR/MRP), member 11LO000792SABCC1116q12.1
Synonyms: MRP8 ;
Sites List: 
See Sites List
External Resources: Entrez Gene Locus Information   OMIM Locus Description   GenBank mRNA Sequence   GenBank Complete Sequence    UniGene   GDB Gene Information   PharmGKB Gene Information   
References: See References
Locus Description: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. The ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. Yabuuchi et al. (2001) determined that the ABCC11 gene contains 30 exons spanning 68 kb and that the separation between the ABCC11 and ABCC12 genes is about 20 kb. A SNP in this gene is responsible for determination of human earwax type. Multiple alternatively spliced transcript variants have been described for this gene.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
dbSNP rs#
(Navigates to dbSNP
reference page)
Chr-PositionStatus# Populations
Exon29 del27   028
rs8050306rs8050306   4819710394
rs16945914rs16945914   4819933350
rs10163354rs10163354   4821071994
rs12443685rs12443685   48226479117
rs16945930rs16945930   4823432750
rs7206909rs7206909   4823666694
rs7194667rs7194667   4824289894
rs10521168rs10521168   4824575494
rs9939742rs9939742   4825398650
G/A SNP (Gly180Arg)rs17822931   48258198133
rs8056100rs8056100   4826063094
rs11861379rs11861379   4826831894

- 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.


© 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