Hs02173457_cn

• Gene Symbol: SCAP
• Assay Reference Genome Location: Chr.3:47414332 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 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCAP	NM_001320044.1	19	3213	NP_001306973.1
	NM_012235.3	22	3701	NP_036367.2
	XM_005264967.1	22	3625	XP_005265024.1
	XM_005264968.1	19	3370	XP_005265025.1
	XM_005264971.1	16	2781	XP_005265028.1
	XM_011533501.1	22	3728	XP_011531803.1
	XM_011533502.2	14	2377	XP_011531804.1
	XM_017005918.1	22	3715	XP_016861407.1
	XM_017005919.1	22	3648	XP_016861408.1
	XM_017005920.1	22	3645	XP_016861409.1
	XM_017005921.1	16	2778	XP_016861410.1
	AK027402.1	16	2691	BAB55088.1
	AK074312.1	2	562
	AK075528.1	10	871	BAC11673.1
	AK091005.1	1	1533
	AK291484.1	17	2891
	AK300311.1	19	3103
	BC020987.1	14	2419	AAH20987.1
	BC027207.2	17	2394	AAH27207.1
	D83782.2	22	3687

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	PTPN23 SCAP
nsv428417	Chr.3:46638962 - 47778557 on Build GRCh38	Loss	PRSS50 PTPN23 KLHL18 SCAP ALS2CL KIF9-AS1 NRADDP CCDC12 ELP6 PRSS42 KIF9 PRSS46 PRSS45 TMIE NBEAL2 CSPG5 PRSS43 SNORD13P3 PTH1R MYL3 SETD2 SMARCC1

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