UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:DNC
HGNC Symbol:SLC25A19
HGNC Description:solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
HGNC ID:14409
Superfamily:SLC
Chromosome:Chr.17(-): 73269061-73285530 GRCh37
Location:17q25.3
OMIM:606521
OMIM Phenotype:Microcephaly, amish type
Accessions:AK075239
Nucleotide RefSeq:NM_001126121
Protein RefSeq:NP_001119593
Entrez:60386
Ensembl:ENSG00000125454
Isoforms:7
Evidence:None
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA37879
HPRD ID:08405
Substrates:None
Trivial Names:DNC, TPC, MUP1, MCPHA, THMD3, THMD4
Transcripts:NM_001126121.1 [Chr.17(-): 73269061-73285530 GRCh37]
NM_001126122.1 [Chr.17(-): 73269061-73285530 GRCh37]
NM_021734.4 [Chr.17(-): 73269061-73285530 GRCh37]
XM_005257561.1 [Chr.17(-): 73269073-73285530 GRCh37]
XM_005257559.1 [Chr.17(-): 73269073-73285530 GRCh37]
XM_005257560.1 [Chr.17(-): 73269073-73285441 GRCh37]
XM_005257562.1 [Chr.17(-): 73269073-73285440 GRCh37]
ENST00000320362 [Chr.17(-): 73269074-73285514 GRCh37]
ENST00000375261 [Chr.17(-): 73269532-73282845 GRCh37]
ENST00000402418 [Chr.17(-): 73269074-73283755 GRCh37]
ENST00000416858 [Chr.17(-): 73269073-73285471 GRCh37]
ENST00000442286 [Chr.17(-): 73269074-73285471 GRCh37]
ENST00000579207 [Chr.17(-): 73279504-73285453 GRCh37]
ENST00000579228 [Chr.17(-): 73284201-73285530 GRCh37]
ENST00000580151 [Chr.17(-): 73279510-73285487 GRCh37]
ENST00000580273 [Chr.17(-): 73274319-73285591 GRCh37]
ENST00000580994 [Chr.17(-): 73269111-73285492 GRCh37]
ENST00000581988 [Chr.17(-): 73279646-73285441 GRCh37]
ENST00000582778 [Chr.17(-): 73282416-73285293 GRCh37]
ENST00000582822 [Chr.17(-): 73269073-73282804 GRCh37]
ENST00000583332 [Chr.17(-): 73269632-73285467 GRCh37]
ENST00000584438 [Chr.17(-): 73282728-73285503 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 SLC25A19.

Variant Data

View all PMT variants for SLC25A19 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.