Hs02161769_cn

• Gene Symbol: SCAP
• Assay Reference Genome Location: Chr.3:47417366 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 22937
• Gene Name: SREBF chaperone
• Gene Aliases: -
• Location: Chr.3:47413685-47477126 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCAP	NM_001320044.1	14	2679	NP_001306973.1
	NM_012235.3	17	3167	NP_036367.2
	XM_005264967.1	17	3091	XP_005265024.1
	XM_005264968.1	14	2836	XP_005265025.1
	XM_005264971.1	11	2247	XP_005265028.1
	XM_011533501.1	17	3194	XP_011531803.1
	XM_011533502.2	9	1843	XP_011531804.1
	XM_017005918.1	17	3181	XP_016861407.1
	XM_017005919.1	17	3114	XP_016861408.1
	XM_017005920.1	17	3111	XP_016861409.1
	XM_017005921.1	11	2244	XP_016861410.1
	AK027402.1	11	2157	BAB55088.1
	AK074312.1	7	1096
	AK075528.1			BAC11673.1
	AK291484.1	12	2357
	AK300311.1	14	2569
	BC020987.1	9	1885	AAH20987.1
	BC027207.2	12	1860	AAH27207.1
	D83782.2	17	3153

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv954480	Chr.3:47404811 - 47421010 on Build GRCh38	Deletion	SCAP PTPN23
nsv428417	Chr.3:46638962 - 47778557 on Build GRCh38	Loss	PTH1R CSPG5 PRSS43 KIF9 PRSS42 PTPN23 SMARCC1 NRADDP KIF9-AS1 PRSS50 PRSS46 TMIE ALS2CL SNORD13P3 ELP6 SCAP CCDC12 KLHL18 MYL3 PRSS45 SETD2 NBEAL2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

response to hypoxia
aging
cholesterol metabolic process
response to insulin
SREBP signaling pathway
regulation of fatty acid biosynthetic process
negative regulation of cholesterol biosynthetic process
positive regulation of low-density lipoprotein particle receptor biosynthetic process

Function(s)

protein binding
cholesterol binding
protein complex binding
unfolded protein binding