View gene HPS6

General information
Gene symbol HPS6
Gene name Hermansky-Pudlak syndrome 6
Chromosome 10
Chromosomal band q24.32
Imprinted Unknown
Genomic reference NG_012029.1
Transcript reference NM_024747.5
Exon/intron information NM_024747.5
Associated with diseases HPS-6
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 9
Individuals with public variants 6
Hidden variants 0
Date created April 29, 2010
Date last updated July 25, 2014
Version HPS6:140725

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/HPS6
External URL Orphanet
HGNC 18817
Entrez Gene 79803
PubMed articles HPS6
OMIM - Gene 607522
OMIM - Diseases HPS-6 (Hermansky-Pudlak syndrome, type 6 (HPS-6))
HGMD HPS6
GeneCards HPS6
GeneTests HPS6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009603 10 Hermansky-Pudlak syndrome 6 NM_024747.5 NP_079023.2 12


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