SLC34A1 gene homepage

General information
Gene symbol SLC34A1
Gene name solute carrier family 34 (sodium phosphate), member 1
Chromosome 5
Chromosomal band q35.3
Imprinted Unknown
Genomic reference NG_016223.1
Transcript reference NM_003052.4
Exon/intron information NM_003052.4 exon/intron table
Associated with diseases FRTS-2, HCINF-2, NPHLOP-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 59
Unique public DNA variants reported 31
Individuals with public variants 95
Hidden variants 0
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 June 24, 2020
Version SLC34A1:200624

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_003052.4.
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 https://www.LOVD.nl/SLC34A1
HGNC 11019
Entrez Gene 6569
PubMed articles SLC34A1
OMIM - Gene 182309
OMIM - Diseases FRTS-2 (Fanconi renotubular syndrome, type 2 (FRTS-2))
HCINF-2 (hypercalcemia, infantile, type 2 (HCINF-2))
NPHLOP-1 (nephrolithiasis/osteoporosis, hypophosphatemic, type 1 (NPHLOP-1))
HGMD SLC34A1
GeneCards SLC34A1
GeneTests SLC34A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019273 5 transcript variant 1 NM_003052.4 NP_003043.3 59


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