Eye diseases - LOVD
cyclic nucleotide gated channel beta 3 (CNGB3)
LOVD v.2.0 Build 35 [
Current LOVD status
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Curator:
LOVD-team, but with Curator vacancy
CNGB3 homepage
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General information
Gene name
cyclic nucleotide gated channel beta 3
Gene symbol
CNGB3
Chromosome Location
8q21.3
Database location
grenada.lumc.nl
Curator
LOVD-team, but with Curator vacancy
PubMed references
View all (unique)
PubMed references
in the CNGB3 database
Date of creation
July 16, 2012
Last update
July 16, 2012
Version
CNGB3 120716
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_016980.1
Transcript refseq ID
NM_019098.4
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
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Graphical displays and utilities
Summary tables
Summary of all sequence variants in the CNGB3 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
2153
Entrez Gene
54714
OMIM - Gene
605080
OMIM - Disease
Achromatopsia-3 (ACHM3)
UniProtKB (SwissProt/TrEMBL)
Q9NQW8
HGMD
CNGB3
GeneCards
CNGB3
GeneTests
CNGB3
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©2004-2012
Leiden University Medical Center