UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC25A30
HGNC Symbol:SLC25A30
HGNC Description:solute carrier family 25, member 30
HGNC ID:27371
Superfamily:SLC
Chromosome:Chr.13(-): 45960520-45992549 GRCh37
Location:13q14.13
OMIM:610793
OMIM Phenotype:None
Accessions:AL627107
Nucleotide RefSeq:NM_001010875
Protein RefSeq:NP_001010875
Entrez:253512
Ensembl:ENSG00000174032
Isoforms:8
Evidence:None
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA134931353
HPRD ID:18056
Substrates:None
Trivial Names:KMCP1
Transcripts:NM_001010875.2 [Chr.13(-): 45967451-45992516 GRCh37]
XM_005266323.1 [Chr.13(-): 45960520-45992516 GRCh37]
XM_005266324.1 [Chr.13(-): 45967451-45992549 GRCh37]
XM_005266325.1 [Chr.13(-): 45967451-45992515 GRCh37]
XM_005266326.1 [Chr.13(-): 45967451-45986073 GRCh37]
XM_005266321.1 [Chr.13(-): 45970157-45992516 GRCh37]
XM_005266327.1 [Chr.13(-): 45970157-45976973 GRCh37]
XM_005266322.1 [Chr.13(-): 45972022-45992516 GRCh37]
ENST00000310862 [Chr.13(-): 45970083-45992513 GRCh37]
ENST00000463262 [Chr.13(-): 45976461-45992515 GRCh37]
ENST00000519547 [Chr.13(-): 45975267-45992515 GRCh37]
ENST00000519676 [Chr.13(-): 45967451-45992515 GRCh37]
ENST00000522438 [Chr.13(-): 45975323-45992590 GRCh37]
ENST00000523988 [Chr.13(-): 45967451-45978518 GRCh37]
ENST00000539591 [Chr.13(-): 45969619-45992509 GRCh37]
Annotation History:View Events (59)

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 SLC25A30.

Variant Data

View all PMT variants for SLC25A30 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.