UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:PHC
HGNC Symbol:SLC25A3
HGNC Description:solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
HGNC ID:10989
Superfamily:SLC
Chromosome:Chr.12(+): 98987403-98995778 GRCh37
Location:12q23
OMIM:600370
OMIM Phenotype:None
Accessions:BI458030,BX647062,X60036
Nucleotide RefSeq:NM_002635
Protein RefSeq:NP_002626
Entrez:5250
Ensembl:ENSG00000075415
Isoforms:5
Evidence:None
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA35865
HPRD ID:02654
Substrates:None
Trivial Names:PHC, PTP, OK/SW-cl.48
Transcripts:NM_002635.3 [Chr.12(+): 98987403-98995778 GRCh37]
NM_005888.3 [Chr.12(+): 98987403-98995778 GRCh37]
NM_213611.2 [Chr.12(+): 98987403-98995778 GRCh37]
XM_005268981.1 [Chr.12(+): 98987428-98995486 GRCh37]
XM_005268982.1 [Chr.12(+): 98987464-98995486 GRCh37]
ENST00000188376 [Chr.12(+): 98987403-98995775 GRCh37]
ENST00000228318 [Chr.12(+): 98987403-98995775 GRCh37]
ENST00000401722 [Chr.12(+): 98987369-98995485 GRCh37]
ENST00000546766 [Chr.12(+): 98987433-98995775 GRCh37]
ENST00000547444 [Chr.12(+): 98991343-98992345 GRCh37]
ENST00000547534 [Chr.12(+): 98987464-98991851 GRCh37]
ENST00000547869 [Chr.12(+): 98994843-98995946 GRCh37]
ENST00000547908 [Chr.12(+): 98989442-98992341 GRCh37]
ENST00000548046 [Chr.12(+): 98987434-98991812 GRCh37]
ENST00000548480 [Chr.12(+): 98993636-98995486 GRCh37]
ENST00000548847 [Chr.12(+): 98987503-98995446 GRCh37]
ENST00000549338 [Chr.12(+): 98987474-98995452 GRCh37]
ENST00000550695 [Chr.12(+): 98987464-98991814 GRCh37]
ENST00000551123 [Chr.12(+): 98987474-98995485 GRCh37]
ENST00000551265 [Chr.12(+): 98987464-98988281 GRCh37]
ENST00000551917 [Chr.12(+): 98987428-98995485 GRCh37]
ENST00000552981 [Chr.12(+): 98987438-98995486 GRCh37]

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 SLC25A3.

Variant Data

View all PMT variants for SLC25A3 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.