UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SMVT
HGNC Symbol:SLC5A6
HGNC Description:solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6
HGNC ID:11041
Superfamily:SLC
Chromosome:Chr.2(-): 27422455-27435175 GRCh37
Location:2p23
OMIM:604024
OMIM Phenotype:None
Accessions:AF069307
Nucleotide RefSeq:NM_021095
Protein RefSeq:NP_066918
Entrez:8884
Ensembl:ENSG00000138074
Isoforms:1
Evidence:None
Tissues:brain, heart, kidney, lung, placenta
Type:protein-coding
Sets:II
PharmGKB ID:PA379
HPRD ID:04934
Substrates:biotin, lipoate, pantothenate
Trivial Names:SMVT
Transcripts:NM_021095.2 [Chr.2(-): 27422455-27435175 GRCh37]
ENST00000310574 [Chr.2(-): 27422455-27435154 GRCh37]
ENST00000401463 [Chr.2(-): 27429762-27434661 GRCh37]
ENST00000408041 [Chr.2(-): 27423304-27434620 GRCh37]
ENST00000412471 [Chr.2(-): 27428894-27434898 GRCh37]
ENST00000414408 [Chr.2(-): 27430283-27435130 GRCh37]
ENST00000426119 [Chr.2(-): 27430172-27434756 GRCh37]
ENST00000428518 [Chr.2(-): 27430343-27435390 GRCh37]
ENST00000430186 [Chr.2(-): 27430403-27435645 GRCh37]
ENST00000432106 [Chr.2(-): 27429805-27435818 GRCh37]
ENST00000442731 [Chr.2(-): 27430438-27435826 GRCh37]
ENST00000445802 [Chr.2(-): 27428275-27434806 GRCh37]
ENST00000461319 [Chr.2(-): 27423970-27426171 GRCh37]
ENST00000461757 [Chr.2(-): 27422455-27425917 GRCh37]
ENST00000464538 [Chr.2(-): 27428003-27429187 GRCh37]
ENST00000476319 [Chr.2(-): 27424652-27427949 GRCh37]
ENST00000481751 [Chr.2(-): 27424280-27425984 GRCh37]
ENST00000488743 [Chr.2(-): 27422457-27435014 GRCh37]
ENST00000492069 [Chr.2(-): 27424580-27427540 GRCh37]
Annotation History:View Events (2)

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 SLC5A6.

Variant Data

View all PMT variants for SLC5A6 on UCSC Genome Browser
Showing SNP features for transcript: NM_021095  
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.