The SETBP1 gene homepage

General information
Gene symbol SETBP1
Gene name SET binding protein 1
Chromosome 18
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_027527.2
Transcript reference NM_015559.2
Exon/intron information NM_015559.2 exon/intron table
Associated with diseases ID, MRD29, SGS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Helger Yntema
Total number of public variants reported 177
Unique public DNA variants reported 141
Individuals with public variants 294
Hidden variants 24
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created June 25, 2010
Date last updated May 09, 2022
Version SETBP1:220509

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_015559.2.
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 15573
Entrez Gene 26040
PubMed articles SETBP1
OMIM - Gene 611060
OMIM - Diseases MRD29 (mental retardation, autosomal dominant, type 29 (MRD29))
SGS (Schinzel-Giedion midface retraction syndrome (SGS))
GeneCards SETBP1
GeneTests SETBP1
Orphanet SETBP1

Active transcripts




NCBI ID     

NCBI Protein ID     

00024168 18 transcript variant 1 NM_015559.2 NP_056374.2 177

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