Hs03487655_cn

• Gene Symbol: HPS3
• Assay Reference Genome Location: Chr.3:149134205 on build GRCh38
• Cytoband: 3q24

Target Gene Details

• Entrez Gene ID: 84343
• Gene Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
• Gene Aliases: BLOC2S1, SUTAL
• Location: Chr.3:149129584-149173196 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPS3	NM_001308258.1			NP_001295187.1
	NM_032383.4			NP_115759.2
	XM_005247834.3			XP_005247891.1
	XM_017007323.1			XP_016862812.1
	AK055245.1
	AK291631.1
	AK298478.1
	AY033141.1			AAK53457.1
	BC040359.1			AAH40359.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv998572	Chr.3:149131476 - 149412700 on Build GRCh38	Loss	TM4SF1-AS1 HPS3 TM4SF18 TM4SF1 CP
esv2672056	Chr.3:149123355 - 149138179 on Build GRCh38	Deletion	HPS3
esv3598139	Chr.3:149123365 - 149138174 on Build GRCh38	Loss	HPS3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

organelle organization
pigmentation