Hs07046918_cn

• Gene Symbol: NPC2
• Assay Reference Genome Location: Chr.14:74486626 on build GRCh38
• Cytoband: 14q24.3

Target Gene Details

• Entrez Gene ID: 10577
• Gene Name: NPC intracellular cholesterol transporter 2
• Gene Aliases: EDDM1, HE1
• Location: Chr.14:74479940-74493475 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NPC2	NM_006432.3			NP_006423.1
	XM_017020930.1			XP_016876419.1
	AK222474.1			BAD96194.1
	AK298975.1
	AK300879.1
	AK311931.1
	BC002532.2			AAH02532.1
	X67698.1			CAA47928.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3634943	Chr.14:74426684 - 74537774 on Build GRCh38	Gain	ISCA2 LTBP2 MIR4709 NPC2 SYNDIG1L
nsv832829	Chr.14:74377797 - 74545100 on Build GRCh38	Loss	ISCA2 LTBP2 MIR4709 NPC2 SYNDIG1L

More Information

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

Gene Ontology Categories:

Process(es)

cholesterol metabolic process
response to virus
phospholipid transport
regulation of isoprenoid metabolic process
cholesterol transport
intracellular sterol transport
intracellular cholesterol transport
cholesterol efflux
cholesterol homeostasis
glycolipid transport

Function(s)

protein binding
cholesterol binding
enzyme binding