LOVD PDE6H homepage

General information
Gene name phosphodiesterase 6H, cGMP-specific, cone, gamma
Gene symbol PDE6H
Chromosome Location 12p13
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the PDE6H database
Date of creation July 16, 2012
Last update October 03, 2013
Version PDE6H131003
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_016859.1
Transcript refseq ID NM_006205.2
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
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the PDE6H 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 8790
Entrez Gene 5149
OMIM - Gene 601190
OMIM - Disease Retinal cone dystrophy 3 (RCD3A)
UniProtKB (SwissProt/TrEMBL) Q13956
HGMD PDE6H
GeneCards PDE6H
GeneTests PDE6H