ITPR1 gene homepage

General information
Gene symbol ITPR1
Gene name inositol 1,4,5-trisphosphate receptor, type 1
Chromosome 3
Chromosomal band p26.1
Imprinted Unknown
Genomic reference NG_016144.1
Transcript reference NM_001168272.1
Exon/intron information NM_001168272.1 exon/intron table
Associated with diseases SCA-15, SCA-29
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 51
Unique public DNA variants reported 28
Individuals with public variants 12
Hidden variants 64
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 September 13, 2012
Date last updated February 16, 2018
Version ITPR1:180216

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_001168272.1.
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
HGNC 6180
Entrez Gene 3708
PubMed articles ITPR1
OMIM - Gene 147265
OMIM - Diseases SCA-15 (ataxia, spinocerebellar, type 15 (SCA-15))
SCA-29 (ataxia, spinocerebellar, type 29, congenital nonprogressive (SCA-29))
GeneCards ITPR1
GeneTests ITPR1

Active transcripts




NCBI ID     

NCBI Protein ID     

00024130 3 transcript variant 3 NM_001168272.1 NP_001161744.1 51

Copyright & disclaimer
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