UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:AAAT
HGNC Symbol:SLC1A7
HGNC Description:solute carrier family 1 (glutamate transporter), member 7
HGNC ID:10945
Superfamily:SLC
Chromosome:Chr.1(-): 53552855-53608304 GRCh37
Location:1p32.3
OMIM:604471
OMIM Phenotype:None
Accessions:BC017242
Nucleotide RefSeq:NM_006671
Protein RefSeq:NP_006662
Entrez:6512
Ensembl:ENSG00000162383
Isoforms:3
Evidence:Substrate In Vitro Evidence: Glutamate - Xenopus oocyte expression. Arriza JL, et al. PNAS. 1997 Apr 15;94(8):4155-60. D,L-TBOA L-TMOA THA - Xenopus oocyte expression. Shigeri Y, et al. J Neurochem. 2001 Oct;79(2):297-302. Tissue Distribution Evidence: Retina (rat) - Immunohistochem. Pow DV, et al. Neurosci Lett. 2000 Feb 11;280(1):21-4.
Tissues:Retina
Type:protein-coding
Sets:0
PharmGKB ID:PA35832
HPRD ID:09194
Substrates:Glutamate, D,L-TBOA, L-TMOA, THA
Trivial Names:AAAT, EAAT5
Transcripts:NM_006671.4 [Chr.1(-): 53552855-53608289 GRCh37]
XM_005271133.1 [Chr.1(-): 53552855-53608280 GRCh37]
XM_005271134.1 [Chr.1(-): 53552855-53608276 GRCh37]
ENST00000371491 [Chr.1(-): 53573600-53608289 GRCh37]
ENST00000371494 [Chr.1(-): 53552855-53608249 GRCh37]
ENST00000488036 [Chr.1(-): 53552856-53556654 GRCh37]
Annotation History:View Events (18)

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 SLC1A7.

Variant Data

View all PMT variants for SLC1A7 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.