HPS5 gene homepage

General information
Gene symbol HPS5
Gene name Hermansky-Pudlak syndrome 5
Chromosome 11
Chromosomal band p14
Imprinted Unknown
Genomic reference NG_008877.1
Transcript reference NM_181507.1
Exon/intron information NM_181507.1 exon/intron table
Associated with diseases HPS-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 12
Unique public DNA variants reported 11
Individuals with public variants 9
Hidden variants 0
Date created April 29, 2010
Date last updated April 29, 2016
Version HPS5:160429

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_181507.1.
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/HPS5
External URL Orphanet
HGNC 17022
Entrez Gene 11234
PubMed articles HPS5
OMIM - Gene 607521
OMIM - Diseases HPS-5 (Hermansky-Pudlak syndrome, type 5 (HPS-5))
GeneCards HPS5
GeneTests HPS5

Active transcripts




NCBI ID     

NCBI Protein ID     

00009602 11 transcript variant 1 NM_181507.1 NP_852608.1 12

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.