UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:KCC3
HGNC Symbol:SLC12A6
HGNC Description:solute carrier family 12 (potassium/chloride transporter), member 6
HGNC ID:10914
Superfamily:SLC
Chromosome:Chr.15(-): 34522197-34630265 GRCh37
Location:15q13
OMIM:604878
OMIM Phenotype:Agenesis of the corpus callosum with peripheral neuropathy
Accessions:NM_005135
Nucleotide RefSeq:NM_001042494
Protein RefSeq:NP_001035959
Entrez:9990
Ensembl:ENSG00000140199
Isoforms:11
Evidence:Substrate In Vitro Evidence: K- and Cl- 1. Review article. Hebert SC, et al. Pflugers Archives. 2003 (Epub) Substrate In Vivo Evidence: Genetic mutations associated with agenesis of corpus callosum (neurological disease) 1. Review article. Hebert SC, et al. Pflugers Archives. 2003 (Epub) Tissue Distribution Evidence: Muscle, Brain, Spinal cord, Kidney, Heart, Pancreas, Placenta 1. Review article. Hebert SC, et al. Pflugers Archives. 2003 (Epub)
Tissues:Muscle, Brain, Spinal cord, Kidney, Heart, Pancreas, Placenta
Type:protein-coding
Sets:V
PharmGKB ID:PA35808
HPRD ID:09220
Substrates:K- and Cl-
Trivial Names:KCC3, ACCPN, KCC3A, KCC3B
Transcripts:NM_001042494.1 [Chr.15(-): 34522197-34629961 GRCh37]
NM_001042495.1 [Chr.15(-): 34522197-34630265 GRCh37]
NM_001042496.1 [Chr.15(-): 34522197-34629961 GRCh37]
NM_001042497.1 [Chr.15(-): 34522197-34629045 GRCh37]
NM_005135.2 [Chr.15(-): 34522197-34611021 GRCh37]
NM_133647.1 [Chr.15(-): 34522197-34629045 GRCh37]
XM_005254817.1 [Chr.15(-): 34522197-34630265 GRCh37]
XM_005254821.1 [Chr.15(-): 34522197-34630261 GRCh37]
XM_005254818.1 [Chr.15(-): 34522197-34629927 GRCh37]
XM_005254820.1 [Chr.15(-): 34522197-34611027 GRCh37]
XM_005254819.1 [Chr.15(-): 34522197-34611027 GRCh37]
ENST00000290209 [Chr.15(-): 34525666-34610980 GRCh37]
ENST00000354181 [Chr.15(-): 34525460-34629953 GRCh37]
ENST00000397702 [Chr.15(-): 34525460-34630261 GRCh37]
ENST00000397707 [Chr.15(-): 34525460-34629045 GRCh37]
ENST00000451844 [Chr.15(-): 34525463-34567596 GRCh37]
ENST00000458406 [Chr.15(-): 34525460-34629961 GRCh37]
ENST00000558589 [Chr.15(-): 34526082-34629958 GRCh37]
ENST00000558667 [Chr.15(-): 34525913-34630258 GRCh37]
ENST00000558950 [Chr.15(-): 34530433-34533245 GRCh37]
ENST00000559076 [Chr.15(-): 34529285-34530597 GRCh37]
ENST00000559236 [Chr.15(-): 34553131-34630258 GRCh37]
ENST00000559441 [Chr.15(-): 34529682-34530911 GRCh37]
ENST00000559484 [Chr.15(-): 34553179-34629943 GRCh37]
ENST00000559523 [Chr.15(-): 34525460-34629961 GRCh37]
ENST00000559664 [Chr.15(-): 34525460-34629987 GRCh37]
ENST00000560023 [Chr.15(-): 34533264-34537541 GRCh37]
ENST00000560164 [Chr.15(-): 34525463-34591859 GRCh37]
ENST00000560332 [Chr.15(-): 34548437-34591837 GRCh37]
ENST00000560611 [Chr.15(-): 34525460-34629045 GRCh37]
ENST00000561080 [Chr.15(-): 34525464-34630258 GRCh37]
ENST00000561120 [Chr.15(-): 34551074-34630258 GRCh37]
Annotation History:View Events (42)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC12A6.

Variant Data

View all PMT variants for SLC12A6 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.