IDH3B gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol IDH3B
Gene name isocitrate dehydrogenase 3 (NAD+) beta
Chromosome 20
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_012149.1
Transcript reference NM_001258384.1, NM_006899.3
Associated with diseases RP-46
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 24
Unique public DNA variants reported 22
Individuals with public variants 989
Hidden variants 0
Notes This database is one of the "Eye disease" gene variant databases.
Date created July 16, 2012
Date last updated July 24, 2019
Version IDH3B:190724

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 5385
Entrez Gene 3420
PubMed articles IDH3B
OMIM - Gene 604526
OMIM - Diseases RP-46 (retinitis pigmentosa, type 46 (RP-46))

Active transcripts




NCBI ID     

NCBI Protein ID     

00025401 20 transcript variant 1 NM_006899.3 NP_008830.2 24
00009785 20 transcript variant 4 NM_001258384.1 NP_001245313.1 23

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.