UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:SLC4A1AP
HGNC Description:solute carrier family 4 (anion exchanger), member 1, adaptor protein
HGNC ID:13813
Superfamily:SLC
Chromosome:Chr.2(+): 27886338-27917847 GRCh37
Location:2p23.3
OMIM:602655
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_018158
Protein RefSeq:NP_060628
Entrez:22950
Ensembl:ENSG00000163798
Isoforms:1
Evidence:None
Tissues:in mouse the gene is widely expressed at a low level
Type:protein-coding
Sets:None
PharmGKB ID:PA37811
HPRD ID:04038
Substrates:N/A
Trivial Names:HLC3
Transcripts:NM_018158.2 [Chr.2(+): 27886338-27917847 GRCh37]
ENST00000326019 [Chr.2(+): 27886338-27917836 GRCh37]
ENST00000427424 [Chr.2(+): 27887334-27898559 GRCh37]
ENST00000492196 [Chr.2(+): 27914425-27917840 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 SLC4A1AP.

Variant Data

View all PMT variants for SLC4A1AP on UCSC Genome Browser
Showing SNP features for transcript: NM_018158  
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.