Hs00248480_cn

• Gene Symbol: HPS6
• Assay Reference Genome Location: Chr.10:102067503 on build GRCh38
• Cytoband: 10q24.32

Target Gene Details

• Entrez Gene ID: 79803
• Gene Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
• Gene Aliases: BLOC2S3
• Location: Chr.10:102065367-102068038 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPS6	NM_024747.5	1	2137	NP_079023.2
	AF536238.1	1	2102	AAO25965.1
	AK026154.1	1	930	BAB15378.1
	BC011594.1	1	2102	AAH11594.2
	BC014993.1	1	2114	AAH14993.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv482149	Chr.10:102065390 - 102068035 on Build GRCh38	Gain	HPS6

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

organelle organization
blood coagulation
melanocyte differentiation
protein localization to membrane

Function(s)

Rab GTPase binding
GTP-dependent protein binding