UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:SLC46A1
HGNC Description:solute carrier family 46 (folate transporter), member 1
HGNC ID:30521
Superfamily:SLC
Chromosome:Chr.17(-): 26721661-26733230 GRCh37
Location:17q11.2
OMIM:611672
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_080669
Protein RefSeq:NP_542400
Entrez:113235
Ensembl:ENSG00000076351
Isoforms:3
Evidence:None
Tissues:None
Type:protein-coding
Sets:None
PharmGKB ID:
HPRD ID:14715
Substrates:None
Trivial Names:G21, HCP1, PCFT
Transcripts:NM_080669.4 [Chr.17(-): 26721661-26733230 GRCh37]
NM_001242366.1 [Chr.17(-): 26721661-26733230 GRCh37]
XM_005277786.1 [Chr.17(-): 80699-88073 GRCh37]
ENST00000321666 [Chr.17(-): 26721661-26733228 GRCh37]
ENST00000440501 [Chr.17(-): 26721661-26733228 GRCh37]
ENST00000578217 [Chr.17(-): 26731258-26732765 GRCh37]
ENST00000581516 [Chr.17(-): 26732395-26734215 GRCh37]
ENST00000582345 [Chr.17(-): 26727534-26728063 GRCh37]
ENST00000582590 [Chr.17(-): 26731334-26733186 GRCh37]
ENST00000582735 [Chr.17(-): 26726362-26731839 GRCh37]
ENST00000583295 [Chr.17(-): 26722695-26733219 GRCh37]
ENST00000584426 [Chr.17(-): 26732066-26733617 GRCh37]
ENST00000584729 [Chr.17(-): 26721775-26733228 GRCh37]
ENST00000584995 [Chr.17(-): 26731742-26733648 GRCh37]
Annotation History:View Events (11)

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 SLC46A1.

Variant Data

View all PMT variants for SLC46A1 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.