UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CAC
HGNC Symbol:SLC25A20
HGNC Description:solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
HGNC ID:1421
Superfamily:SLC
Chromosome:Chr.3(-): 48894356-48936426 GRCh37
Location:3p21.31
OMIM:613698
OMIM Phenotype:Carnitine-acylcarnitine translocase deficiency
Accessions:BC001689,BI913588
Nucleotide RefSeq:NM_000387
Protein RefSeq:NP_000378
Entrez:788
Ensembl:ENSG00000178537
Isoforms:1
Evidence:None
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA35031
HPRD ID:01953
Substrates:None
Trivial Names:CAC, CACT
Transcripts:NM_000387.5 [Chr.3(-): 48894356-48936426 GRCh37]
ENST00000319017 [Chr.3(-): 48894369-48936426 GRCh37]
ENST00000430379 [Chr.3(-): 48894369-48936337 GRCh37]
ENST00000440964 [Chr.3(-): 48894825-48936325 GRCh37]
ENST00000479050 [Chr.3(-): 48894674-48896101 GRCh37]
ENST00000544097 [Chr.3(-): 48894825-48936325 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 SLC25A20.

Variant Data

View all PMT variants for SLC25A20 on UCSC Genome Browser
Showing SNP features for transcript: NM_000387  
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.