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_027527.1
Transcript reference NM_001130110.1, NM_015559.2, XM_005258243.1, XM_005258244.1
Associated with diseases ID, MRD-29, Schinzel-Giedion midface retraction syndrome
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 108
Unique public DNA variants reported 11
Individuals with public variants 35
Hidden variants 187
Date created October 30, 2013
Date last updated September 28, 2016
Version SETBP1:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:15573
Entrez Gene 26040
PubMed articles SETBP1
OMIM - Gene 611060
OMIM - Diseases MRD-29 (mental retardation, autosomal dominant, type 29 (MRD-29))
Schinzel-Giedion midface retraction syndrome
HGMD SETBP1
GeneCards SETBP1
GeneTests SETBP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006999 18 transcript variant 1 NM_015559.2 NP_056374.2 62
00006998 18 transcript variant 2 NM_001130110.1 NP_001123582.1 46
00039229 18 transcript variant X1 XM_005258243.1 XP_005258300.1 -
00039230 18 transcript variant X2 XM_005258244.1 XP_005258301.1 -


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