UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NAT-1
HGNC Symbol:SLC38A6
HGNC Description:solute carrier family 38, member 6
HGNC ID:19863
Superfamily:SLC
Chromosome:Chr.14(+): 61447832-61550451 GRCh37
Location:14q23.1
OMIM:
OMIM Phenotype:None
Accessions:AF543422
Nucleotide RefSeq:NM_153811
Protein RefSeq:NP_722518
Entrez:145389
Ensembl:ENSG00000139974
Isoforms:2
Evidence:Tissue Distribution Evidence: Not tested. ESTs found in placenta, spleen, skeletal muscle, brain, and lung (Mackenzie B, Erickson JD. Sodium-coupled neutral amino acid (System N/A) transporters of the SLC38 gene family. Pflugers Arch,.July 4, 2003 [Epub ahead of print]).
Tissues:ESTs: placenta, spleen, skeletal muscle, brain, lung
Type:protein-coding
Sets:0
PharmGKB ID:PA134932150
HPRD ID:15382
Substrates:Unknown
Trivial Names:NAT-1
Transcripts:NM_153811.2 [Chr.14(+): 61447832-61519263 GRCh37]
NM_001172702.1 [Chr.14(+): 61447832-61550451 GRCh37]
ENST00000267488 [Chr.14(+): 61447880-61519348 GRCh37]
ENST00000354886 [Chr.14(+): 61447832-61550450 GRCh37]
ENST00000451406 [Chr.14(+): 61448011-61550447 GRCh37]
ENST00000456840 [Chr.14(+): 61448162-61550450 GRCh37]
ENST00000491344 [Chr.14(+): 61447995-61550447 GRCh37]
ENST00000524402 [Chr.14(+): 61448914-61504401 GRCh37]
ENST00000525585 [Chr.14(+): 61449262-61454308 GRCh37]
ENST00000525723 [Chr.14(+): 61447944-61550451 GRCh37]
ENST00000526105 [Chr.14(+): 61449083-61503836 GRCh37]
ENST00000526539 [Chr.14(+): 61512825-61550351 GRCh37]
ENST00000527591 [Chr.14(+): 61448155-61519163 GRCh37]
ENST00000528350 [Chr.14(+): 61449275-61509926 GRCh37]
ENST00000529212 [Chr.14(+): 61509868-61519179 GRCh37]
ENST00000529345 [Chr.14(+): 61448162-61550450 GRCh37]
ENST00000532148 [Chr.14(+): 61447955-61468954 GRCh37]
ENST00000533744 [Chr.14(+): 61449275-61512790 GRCh37]
ENST00000534758 [Chr.14(+): 61486254-61497757 GRCh37]
ENST00000554072 [Chr.14(+): 61451482-61501017 GRCh37]
ENST00000554304 [Chr.14(+): 61447951-61471355 GRCh37]
ENST00000554498 [Chr.14(+): 61518604-61519182 GRCh37]
ENST00000556938 [Chr.14(+): 61518533-61519177 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 SLC38A6.

Variant Data

View all PMT variants for SLC38A6 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.