UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC20A1
HGNC Symbol:SLC20A1
HGNC Description:solute carrier family 20 (phosphate transporter), member 1
HGNC ID:10946
Superfamily:SLC
Chromosome:Chr.2(+): 113403434-113421402 GRCh37
Location:2q13
OMIM:137570
OMIM Phenotype:None
Accessions:NM_005415
Nucleotide RefSeq:NM_005415
Protein RefSeq:NP_005406
Entrez:6574
Ensembl:ENSG00000144136
Isoforms:2
Evidence:Substrate In Vitro Evidence: Pi ions 20 X oocytes Tissue Distribution Evidence: ubiquitously expressed (except spleen) 20 Northern
Tissues:ubiquitously expressed (except spleen)
Type:protein-coding
Sets:V
PharmGKB ID:PA35833
HPRD ID:08846
Substrates:Pi ions
Trivial Names:PIT1, GLVR1, PiT-1, Glvr-1
Transcripts:NM_005415.4 [Chr.2(+): 113403434-113421402 GRCh37]
XM_005263743.1 [Chr.2(+): 113405281-113421402 GRCh37]
ENST00000272542 [Chr.2(+): 113403434-113421404 GRCh37]
ENST00000413135 [Chr.2(+): 113405295-113417005 GRCh37]
ENST00000423633 [Chr.2(+): 113405024-113410932 GRCh37]
ENST00000433924 [Chr.2(+): 113405279-113417020 GRCh37]
ENST00000456264 [Chr.2(+): 113405281-113416664 GRCh37]
ENST00000480984 [Chr.2(+): 113409523-113416904 GRCh37]
ENST00000490674 [Chr.2(+): 113415940-113421402 GRCh37]
ENST00000492076 [Chr.2(+): 113409847-113410549 GRCh37]
ENST00000498224 [Chr.2(+): 113405200-113416869 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 SLC20A1.

Variant Data

View all PMT variants for SLC20A1 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:

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.