The SETD2 gene homepage

General information
Gene symbol SETD2
Gene name SET domain containing 2
Chromosome 3
Chromosomal band p21.31
Imprinted Unknown
Genomic reference NG_032091.1
Transcript reference NM_014159.6
Exon/intron information NM_014159.6 exon/intron table
Associated with diseases LLS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Eric Pasmant
Total number of public variants reported 81
Unique public DNA variants reported 71
Individuals with public variants 262
Hidden variants 5
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created February 23, 2012
Date last updated May 09, 2022
Version SETD2:220509

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_014159.6.
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/SETD2
HGNC 18420
Entrez Gene 29072
PubMed articles SETD2
OMIM - Gene 612778
OMIM - Diseases LLS (Luscan-Lumish syndrome (LLS))
HGMD SETD2
GeneCards SETD2
GeneTests SETD2
Orphanet SETD2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018748 3 SET domain containing 2 NM_014159.6 NP_054878.5 81


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