LOVD INPP5E homepage

General information
Gene name inositol polyphosphate-5-phosphatase, 72 kDa
Gene symbol INPP5E
Chromosome Location 9q34.3
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the INPP5E database
Date of creation July 16, 2012
Last update October 03, 2013
Version INPP5E131003
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_016126.1
Transcript refseq ID NM_019892.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
Subscribe to updates of this gene

Graphical displays and utilities
Summary tables Summary of all sequence variants in the INPP5E database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 21474
Entrez Gene 56623
OMIM - Gene 613037
OMIM - Disease Joubert syndrome 1 (JBTS)
UniProtKB (SwissProt/TrEMBL) Q9NRR6
GeneCards INPP5E
GeneTests INPP5E