View AP3B1 gene homepage

General information
Gene symbol AP3B1
Gene name adaptor-related protein complex 3, beta 1 subunit
Chromosome 5
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_003664.3
Exon/intron information NM_003664.3
Associated with diseases HPS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 10
Unique public DNA variants reported 8
Individuals with public variants 6
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated July 25, 2014
Version AP3B1:140725

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
Homepage URL http://www.LOVD.nl/AP3B1
External URL Orphanet
Albinism Database
AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
Mutations of the Adaptin b3a Gene
HGNC 566
Entrez Gene 8546
PubMed articles AP3B1
OMIM - Gene 603401
OMIM - Diseases HPS-2 (Hermansky-Pudlak syndrome, type 2 (HPS-2))
HGMD AP3B1
GeneCards AP3B1
GeneTests AP3B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002637 5 adaptor-related protein complex 3, beta 1 subunit NM_003664.3 NP_003655.3 10


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