UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NACT
HGNC Symbol:SLC13A5
HGNC Description:solute carrier family 13 (sodium-dependent citrate transporter), member 5
HGNC ID:23089
Superfamily:SLC
Chromosome:Chr.17(-): 6588038-6616886 GRCh37
Location:17p13.1
OMIM:608305
OMIM Phenotype:None
Accessions:AY151833
Nucleotide RefSeq:NM_177550
Protein RefSeq:NP_808218
Entrez:284111
Ensembl:ENSG00000141485
Isoforms:4
Evidence:None
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA134950956
HPRD ID:10512
Substrates:None
Trivial Names:NACT
Transcripts:NM_177550.3 [Chr.17(-): 6588038-6616740 GRCh37]
NM_001143838.1 [Chr.17(-): 6588038-6616740 GRCh37]
XM_005256612.1 [Chr.17(-): 6588038-6616886 GRCh37]
XM_005256613.1 [Chr.17(-): 6588038-6616692 GRCh37]
ENST00000293800 [Chr.17(-): 6588042-6616688 GRCh37]
ENST00000381074 [Chr.17(-): 6589399-6616685 GRCh37]
ENST00000433363 [Chr.17(-): 6588032-6616886 GRCh37]
ENST00000570687 [Chr.17(-): 6590673-6594203 GRCh37]
ENST00000572094 [Chr.17(-): 6599136-6616678 GRCh37]
ENST00000572352 [Chr.17(-): 6606392-6616688 GRCh37]
ENST00000572727 [Chr.17(-): 6593281-6599208 GRCh37]
ENST00000573648 [Chr.17(-): 6589416-6616696 GRCh37]
ENST00000574580 [Chr.17(-): 6588042-6593401 GRCh37]
ENST00000574824 [Chr.17(-): 6598727-6608876 GRCh37]
ENST00000575230 [Chr.17(-): 6607355-6616688 GRCh37]
ENST00000576323 [Chr.17(-): 6607200-6616690 GRCh37]
Annotation History:View Events (19)

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 SLC13A5.

Variant Data

View all PMT variants for SLC13A5 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.