UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:PRES
HGNC Symbol:SLC26A5
HGNC Description:solute carrier family 26 (anion exchanger), member 5
HGNC ID:9359
Superfamily:SLC
Chromosome:Chr.7(-): 102993177-103086624 GRCh37
Location:7q22.1
OMIM:604943
OMIM Phenotype:None
Accessions:AF523354
Nucleotide RefSeq:NM_198999
Protein RefSeq:NP_945350
Entrez:375611
Ensembl:ENSG00000170615
Isoforms:5
Evidence:None
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA33731
HPRD ID:09224
Substrates:None
Trivial Names:PRES, DFNB61
Transcripts:NM_198999.2 [Chr.7(-): 103014654-103086624 GRCh37]
NM_206883.2 [Chr.7(-): 102993177-103086624 GRCh37]
NM_206884.2 [Chr.7(-): 102993177-103086624 GRCh37]
NM_206885.2 [Chr.7(-): 102993177-103086624 GRCh37]
NM_001167962.1 [Chr.7(-): 103014654-103086624 GRCh37]
ENST00000306312 [Chr.7(-): 103014654-103086624 GRCh37]
ENST00000339444 [Chr.7(-): 102993177-103086598 GRCh37]
ENST00000354356 [Chr.7(-): 103014708-103083643 GRCh37]
ENST00000356767 [Chr.7(-): 102993177-103086598 GRCh37]
ENST00000393723 [Chr.7(-): 103014825-103061969 GRCh37]
ENST00000393727 [Chr.7(-): 103014825-103061969 GRCh37]
ENST00000393729 [Chr.7(-): 103014713-103083641 GRCh37]
ENST00000393730 [Chr.7(-): 103014654-103083643 GRCh37]
ENST00000393735 [Chr.7(-): 102993177-103086598 GRCh37]
ENST00000423416 [Chr.7(-): 103014708-103083643 GRCh37]
ENST00000432958 [Chr.7(-): 103014659-103086624 GRCh37]
ENST00000445809 [Chr.7(-): 103014654-103083643 GRCh37]
ENST00000454864 [Chr.7(-): 103014654-103083643 GRCh37]
ENST00000456463 [Chr.7(-): 103014713-103083641 GRCh37]
ENST00000487407 [Chr.7(-): 103028970-103086624 GRCh37]
Annotation History:View Events (6)

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 SLC26A5.

Variant Data

View all PMT variants for SLC26A5 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.