View SLC12A6 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol SLC12A6
Gene name solute carrier family 12 (potassium/chloride transporters), member 6
Chromosome 15
Chromosomal band q13
Imprinted Unknown
Genomic reference LRG_270
Transcript reference NM_133647.1
Exon/intron information NM_133647.1
Associated with diseases ACCPN, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 29
Unique public DNA variants reported 22
Individuals with public variants 115
Hidden variants 0
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).ariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Alias KCC3
Date created May 23, 2012
Date last updated September 21, 2015
Version SLC12A6:150921

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/SLC12A6
HGNC 10914
Entrez Gene 9990
PubMed articles SLC12A6
OMIM - Gene 604878
OMIM - Diseases ACCPN (agenesis, corpus callosum, with peripheral neuropathy (ACCPN, Andermann syndrome))
HGMD SLC12A6
GeneCards SLC12A6
GeneTests SLC12A6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023865 15 transcript variant 1 NM_133647.1 NP_598408.1 29


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2016. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.