HPS3 gene homepage

General information
Gene symbol HPS3
Gene name Hermansky-Pudlak syndrome 3
Chromosome 3
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_009847.1
Transcript reference NM_032383.3
Exon/intron information NM_032383.3 exon/intron table
Associated with diseases HPS-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 35
Unique public DNA variants reported 22
Individuals with public variants 24
Hidden variants 0
Download all this gene's data Download all data
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 December 06, 2016
Version HPS3:161206

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_032383.3.
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/HPS3
External URL Orphanet
Mutations of the HPS3 Gene
Albinism Database HPS3 gene
HGNC 15597
Entrez Gene 84343
PubMed articles HPS3
OMIM - Gene 606118
OMIM - Diseases HPS-3 (Hermansky-Pudlak syndrome, type 3 (HPS-3))
GeneCards HPS3
GeneTests HPS3

Active transcripts




NCBI ID     

NCBI Protein ID     

00009601 3 Hermansky-Pudlak syndrome 3 NM_032383.3 NP_115759.2 35

Copyright & disclaimer
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