Eye diseases - LOVD
phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C)
LOVD v.2.0 Build 35 [
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Curator:
LOVD-team, but with Curator vacancy
PDE6C homepage
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General information
Gene name
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
Gene symbol
PDE6C
Chromosome Location
10q24
Database location
grenada.lumc.nl
Curator
LOVD-team, but with Curator vacancy
PubMed references
View all (unique)
PubMed references
in the PDE6C database
Date of creation
July 16, 2012
Last update
July 16, 2012
Version
PDE6C120716
Add sequence variant
Submit a sequence variant
First time submitters
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Reference sequence file
Genomic reference sequence
for describing sequence variants
Genomic refseq ID
NG_016752.1
Transcript refseq ID
NM_006204.3
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 PDE6C 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
8787
Entrez Gene
5146
OMIM - Gene
600827
OMIM - Disease
Cone dystrophy 4 (COD4)
UniProtKB (SwissProt/TrEMBL)
P51160
HGMD
PDE6C
GeneCards
PDE6C
GeneTests
PDE6C
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©2004-2012
Leiden University Medical Center