GALNT12 gene homepage


General information
Gene symbol GALNT12
Gene name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)
Chromosome 9
Chromosomal band q22.33
Imprinted Unknown
Genomic reference NG_028218.1
Transcript reference NM_024642.4
Exon/intron information NM_024642.4 exon/intron table
Associated with diseases CRCS-1, HNPCC-1 (Lynch)
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) InSiGHT - John-Paul Plazzer
Total number of public variants reported 53
Unique public DNA variants reported 32
Individuals with public variants 2923
Hidden variants 0
Notes this is one of the InSiGHT gene variant databases.
We sincerely thank the George Hicks Foundation for their generous support of the curation of the InSiGHT database from 2010 to 2012. We are grateful for the ongoing funding for curation which is provided by the Royal Melbourne Hospital foundation.
Date created February 14, 2012
Date last updated February 22, 2019
Version GALNT12:190222

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_024642.4.
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 https://www.LOVD.nl/GALNT12
External URL Orphanet
HGNC 19877
Entrez Gene 79695
PubMed articles GALNT12
OMIM - Gene 610290
OMIM - Diseases CRCS-1 (cancer, colorectal, susceptibility to, type 1 (CRCS-1))
HNPCC-1 (Lynch) (cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome))
HGMD GALNT12
GeneCards GALNT12
GeneTests GALNT12


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008331 9 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) NM_024642.4 NP_078918.3 53


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.