Hs01164090_cn

• Gene Symbol: NPC1L1
• Assay Reference Genome Location: Chr.7:44516785 on build GRCh38
• Cytoband: 7p13

Target Gene Details

• Entrez Gene ID: 29881
• Gene Name: NPC1 like intracellular cholesterol transporter 1
• Gene Aliases: NPC11L1
• Location: Chr.7:44512440-44541650 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NPC1L1	NM_001101648.1	16	3493	NP_001095118.1
	NM_013389.2	17	3574	NP_037521.2
	XM_011515326.2	15	3344	XP_011513628.1
	XM_011515328.2	13	3092	XP_011513630.1
	AF192522.1	17	3574	AAF20396.1
	AY437865.1	16	3437	AAR97886.1
	AY515256.1	16	3437	AAS56939.1
	AY927603.1
	BC117178.1	16	3491
	BC143756.1	15	3353
	FJ481111.1	16	3437

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv523191	Chr.7:44513639 - 44541392 on Build GRCh38	Loss	NPC1L1
nsv606806	Chr.7:44427130 - 44541392 on Build GRCh38	Loss	NPC1L1 NUDCD3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cholesterol biosynthetic process
sterol transport
intestinal cholesterol absorption
cholesterol transport
lipoprotein metabolic process
response to drug

Function(s)

protein binding
drug binding
Rab GTPase binding
myosin V binding