GUCA1B gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol GUCA1B
Gene name guanylate cyclase activator 1B (retina)
Chromosome 6
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_016216.1
Transcript reference NM_002098.5
Exon/intron information NM_002098.5 exon/intron table
Associated with diseases RP-48
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 31
Unique public DNA variants reported 23
Individuals with public variants 43
Hidden variants 2
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Date created January 06, 2012
Date last updated July 24, 2019
Version GUCA1B:190724

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002098.5.
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 http://www.LOVD.nl/GUCA1B
External URL Orphanet
HGNC 4679
Entrez Gene 2979
PubMed articles GUCA1B
OMIM - Gene 602275
OMIM - Diseases RP-48 (retinitis pigmentosa, type 48 (RP-48))
HGMD GUCA1B
GeneCards GUCA1B
GeneTests GUCA1B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009060 6 guanylate cyclase activator 1B (retina) NM_002098.5 NP_002089.4 31


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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.