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LOVD RD3 homepage

General information
Gene name retinal degeneration 3
Gene symbol RD3
Chromosome Location 1q32.3
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the RD3 database
Date of creation July 16, 2012
Last update July 16, 2012
Version RD3 120716
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_013042.1
Transcript refseq ID NM_183059.2
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 RD3 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 19689
Entrez Gene 343035
OMIM - Gene 180040
OMIM - Disease Leber congenital amaurosis 12 (LCA12)
UniProtKB (SwissProt/TrEMBL) Q7Z3Z2
HGMD RD3
GeneCards RD3
GeneTests RD3

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