UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:PMP34
HGNC Symbol:SLC25A17
HGNC Description:solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17
HGNC ID:10987
Superfamily:SLC
Chromosome:Chr.22(-): 41165636-41215403 GRCh37
Location:22q13.2
OMIM:606795
OMIM Phenotype:None
Accessions:BC024741,BU595416,BU686766
Nucleotide RefSeq:NM_006358
Protein RefSeq:NP_006349
Entrez:10478
Ensembl:ENSG00000100372
Isoforms:3
Evidence:None
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA35863
HPRD ID:08425
Substrates:None
Trivial Names:PMP34
Transcripts:NM_006358.2 [Chr.22(-): 41165636-41215392 GRCh37]
XM_005261306.1 [Chr.22(-): 41165636-41215403 GRCh37]
XM_005261307.1 [Chr.22(-): 41165636-41215353 GRCh37]
ENST00000263255 [Chr.22(-): 41165634-41215334 GRCh37]
ENST00000402844 [Chr.22(-): 41166092-41176198 GRCh37]
ENST00000412879 [Chr.22(-): 41173342-41215393 GRCh37]
ENST00000420970 [Chr.22(-): 41166899-41215330 GRCh37]
ENST00000426396 [Chr.22(-): 41173364-41215336 GRCh37]
ENST00000427084 [Chr.22(-): 41173064-41215371 GRCh37]
ENST00000430221 [Chr.22(-): 41169941-41215320 GRCh37]
ENST00000434185 [Chr.22(-): 41188536-41215379 GRCh37]
ENST00000434193 [Chr.22(-): 41175038-41215341 GRCh37]
ENST00000435456 [Chr.22(-): 41165634-41215386 GRCh37]
ENST00000443810 [Chr.22(-): 41173303-41215384 GRCh37]
ENST00000447566 [Chr.22(-): 41166493-41215354 GRCh37]
ENST00000449676 [Chr.22(-): 41175082-41215350 GRCh37]
ENST00000458600 [Chr.22(-): 41173232-41215403 GRCh37]
ENST00000478550 [Chr.22(-): 41175066-41176259 GRCh37]
ENST00000491545 [Chr.22(-): 41165634-41215342 GRCh37]
ENST00000542412 [Chr.22(-): 41166805-41215291 GRCh37]
ENST00000544408 [Chr.22(-): 41166371-41215313 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 SLC25A17.

Variant Data

View all PMT variants for SLC25A17 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.