UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC17A5
HGNC Symbol:SLC17A5
HGNC Description:solute carrier family 17 (acidic sugar transporter), member 5
HGNC ID:10933
Superfamily:SLC
Chromosome:Chr.6(-): 74303102-74363737 GRCh37
Location:6q13
OMIM:604322
OMIM Phenotype:Salla disease; Infantile sialic acid storage disorder
Accessions:NM_012434
Nucleotide RefSeq:NM_012434
Protein RefSeq:NP_036566
Entrez:26503
Ensembl:ENSG00000119899
Isoforms:4
Evidence:None
Tissues:None
Type:protein-coding
Sets:V
PharmGKB ID:PA35824
HPRD ID:05058
Substrates:None
Trivial Names:SD, AST, NSD, SLD, ISSD, SIASD, SIALIN
Transcripts:NM_012434.4 [Chr.6(-): 74303102-74363737 GRCh37]
XM_005248712.1 [Chr.6(-): 74303102-74363695 GRCh37]
XM_005248711.1 [Chr.6(-): 74303102-74363215 GRCh37]
XM_005248710.1 [Chr.6(-): 74303102-74355242 GRCh37]
ENST00000355773 [Chr.6(-): 74303102-74363878 GRCh37]
ENST00000393019 [Chr.6(-): 74310146-74363696 GRCh37]
ENST00000481996 [Chr.6(-): 74344956-74354186 GRCh37]
Annotation History:View Events (26)

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 SLC17A5.

Variant Data

View all PMT variants for SLC17A5 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.