UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:SLC6A13
HGNC Description:solute carrier family 6 (neurotransmitter transporter), member 13
HGNC ID:11046
Superfamily:SLC
Chromosome:Chr.12(-): 329787-372039 GRCh37
Location:12p13.3
OMIM:615097
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_016615
Protein RefSeq:NP_057699
Entrez:6540
Ensembl:ENSG00000010379
Isoforms:8
Evidence:None
Tissues:rat brain, retina, liver, kidney, heart
Type:protein-coding
Sets:None
PharmGKB ID:PA35909
HPRD ID:10239
Substrates:GABA, beta-alanine
Trivial Names:GAT2, GAT3, GAT-2
Transcripts:NM_016615.4 [Chr.12(-): 329787-372039 GRCh37]
NM_001190997.2 [Chr.12(-): 329787-372039 GRCh37]
XM_005253750.1 [Chr.12(-): 329788-372039 GRCh37]
XM_005253752.1 [Chr.12(-): 329788-372002 GRCh37]
XM_005253751.1 [Chr.12(-): 329788-371966 GRCh37]
XM_005253749.1 [Chr.12(-): 329788-371937 GRCh37]
XM_005253753.1 [Chr.12(-): 329788-336725 GRCh37]
NM_001243392.1 [Chr.12(-): 368155-372039 GRCh37]
ENST00000343164 [Chr.12(-): 329791-372002 GRCh37]
ENST00000436453 [Chr.12(-): 368171-372002 GRCh37]
ENST00000445055 [Chr.12(-): 329789-372039 GRCh37]
ENST00000534887 [Chr.12(-): 346316-347475 GRCh37]
ENST00000536842 [Chr.12(-): 346072-372002 GRCh37]
ENST00000539260 [Chr.12(-): 347092-371982 GRCh37]
ENST00000539668 [Chr.12(-): 331746-333597 GRCh37]
ENST00000542272 [Chr.12(-): 347114-372002 GRCh37]
ENST00000542379 [Chr.12(-): 332280-346407 GRCh37]
ENST00000542947 [Chr.12(-): 333634-336137 GRCh37]
ENST00000543722 [Chr.12(-): 333192-335845 GRCh37]
ENST00000546319 [Chr.12(-): 344360-372039 GRCh37]
Annotation History:View Events (59)

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 SLC6A13.

Variant Data

View all PMT variants for SLC6A13 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:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.