IL12RB1 gene homepage

General information
Gene symbol IL12RB1
Gene name interleukin 12 receptor, beta 1
Chromosome 19
Chromosomal band p13.1
Imprinted Unknown
Genomic reference LRG_72
Transcript reference NM_005535.1
Exon/intron information NM_005535.1 exon/intron table
Associated with diseases IMD-30
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Esther van de Vosse
Total number of public variants reported 339
Unique public DNA variants reported 199
Individuals with public variants 224
Hidden variants 3
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated August 09, 2019
Version IL12RB1:190809

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_005535.1.
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/IL12RB1
External URL Orphanet
HGNC 5971
Entrez Gene 3594
PubMed articles IL12RB1
OMIM - Gene 601604
OMIM - Diseases IMD-30 (immunodeficiency, type 30 (IMD-30))
HGMD IL12RB1
GeneCards IL12RB1
GeneTests IL12RB1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009952 19 transcript variant 1 NM_005535.1 NP_005526.1 339


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 © 2010-2019. 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.