The SLC17A8 gene homepage

General information
Gene symbol SLC17A8
Gene name solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
Chromosome 12
Chromosomal band q23.1
Imprinted Unknown
Genomic reference NG_021175.1
Transcript reference NM_139319.2
Exon/intron information NM_139319.2 exon/intron table
Associated with diseases DFNA25
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 30
Unique public DNA variants reported 25
Individuals with public variants 30
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated November 08, 2023
Version SLC17A8:231108

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_139319.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/SLC17A8
HGNC 20151
Entrez Gene 246213
PubMed articles SLC17A8
OMIM - Gene 607557
OMIM - Diseases DFNA25 (deafness, autosomal dominant, type 25 (DFNA-25))
HGMD SLC17A8
GeneCards SLC17A8
GeneTests SLC17A8
Orphanet SLC17A8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019140 12 transcript variant 1 NM_139319.2 NP_647480.1 30


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