UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:HHH
HGNC Symbol:SLC25A15
HGNC Description:solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
HGNC ID:10985
Superfamily:SLC
Chromosome:Chr.13(+): 41363547-41386601 GRCh37
Location:13q14
OMIM:603861
OMIM Phenotype:HHH syndrome
Accessions:AF112968
Nucleotide RefSeq:NM_014252
Protein RefSeq:NP_055067
Entrez:10166
Ensembl:ENSG00000102743
Isoforms:2
Evidence:None
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA35861
HPRD ID:04838
Substrates:None
Trivial Names:HHH, ORC1, ORNT1, D13S327
Transcripts:NM_014252.3 [Chr.13(+): 41363547-41386596 GRCh37]
XM_005266210.1 [Chr.13(+): 41372794-41386601 GRCh37]
ENST00000338625 [Chr.13(+): 41363633-41384247 GRCh37]
ENST00000417731 [Chr.13(+): 41367294-41381514 GRCh37]
ENST00000470509 [Chr.13(+): 41367294-41381562 GRCh37]
ENST00000478827 [Chr.13(+): 41363548-41382606 GRCh37]
Annotation History:View Events (10)

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 SLC25A15.

Variant Data

View all PMT variants for SLC25A15 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.