The 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 79
Unique public DNA variants reported 65
Individuals with public variants 62
Hidden variants 0
Date created April 29, 2010
Date last updated September 17, 2021
Version HPS5:210917

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
HGNC 17022
Entrez Gene 11234
PubMed articles HPS5
OMIM - Gene 607521
OMIM - Diseases HPS-5 (Hermansky-Pudlak syndrome, type 5 (HPS-5))
HGMD HPS5
GeneCards HPS5
GeneTests HPS5
Orphanet HPS5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009602 11 transcript variant 1 NM_181507.1 NP_852608.1 79


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