Hs05007628_cn

• Gene Symbol: VPS50
• Assay Reference Genome Location: Chr.7:93240591 on build GRCh38
• Cytoband: 7q21.2

Target Gene Details

• Entrez Gene ID: 55610
• Gene Name: VPS50, EARP/GARPII complex subunit
• Gene Aliases: CCDC132, VPS54L
• Location: Chr.7:93232340-93361123 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VPS50	NM_001257998.1			NP_001244927.1
	NM_017667.3			NP_060137.2
	NM_024553.2			NP_078829.1
	XM_011516395.2			XP_011514697.1
	XM_011516396.2			XP_011514698.1
	AB058764.2			BAB47490.2
	AB100163.1
	AK055965.1
	AK126478.1
	AK299582.1
	AL833112.1			CAI46135.1
	BC017888.1			AAH17888.1
	BC108708.1			AAI08709.1
	BC132740.1
	BC132742.1
	BC152424.1
	CB985373.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv528267	Chr.7:93218118 - 93286053 on Build GRCh38	Loss	VPS50 HEPACAM2
nsv607801	Chr.7:93228492 - 93260436 on Build GRCh38	Loss	VPS50 HEPACAM2

More Information

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

Gene Ontology Categories:

Process(es)

protein transport
endocytic recycling
retrograde transport, endosome to Golgi

Function(s)

SNARE binding