DTNBP1 gene homepage

General information
Gene symbol DTNBP1
Gene name dystrobrevin binding protein 1
Chromosome 6
Chromosomal band p22.3
Imprinted Unknown
Genomic reference NG_009309.1
Transcript reference NM_032122.4
Exon/intron information NM_032122.4 exon/intron table
Associated with diseases HPS-7, SCZD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 37
Unique public DNA variants reported 29
Individuals with public variants 36
Hidden variants 8
Date created April 29, 2010
Date last updated March 23, 2020
Version DTNBP1:200323

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_032122.4.
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 http://www.LOVD.nl/DTNBP1
External URL Orphanet
HGNC 17328
Entrez Gene 84062
PubMed articles DTNBP1
OMIM - Gene 607145
OMIM - Diseases HPS-7 (Hermansky-Pudlak syndrome, type 7 (HPS-7))
SCZD (schizophrenia (SCZD))
GeneCards DTNBP1

Active transcripts




NCBI ID     

NCBI Protein ID     

00006733 6 transcript variant 1 NM_032122.4 NP_115498.2 37

Copyright & disclaimer
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