Hs00097934_cn

• Gene Symbol: SFTPC
• Assay Reference Genome Location: Chr.8:22163140 on build GRCh38
• Cytoband: 8p21.3

Target Gene Details

• Entrez Gene ID: 6440
• Gene Name: surfactant protein C
• Gene Aliases: BRICD6, PSP-C, SFTP2, SMDP2, SP-C
• Location: Chr.8:22161671-22164479 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SFTPC	NM_001172357.1			NP_001165828.1
	NM_001172410.1			NP_001165881.1
	NM_001317778.1			NP_001304707.1
	NM_001317779.1			NP_001304708.1
	NM_001317780.1			NP_001304709.1
	NM_003018.3			NP_003009.2
	XM_011544613.2			XP_011542915.1
	AK058094.1
	AK298119.1
	AK315742.1
	BC005913.1			AAH05913.1
	BF433929.1
	BG535994.1
	BG569816.1
	BI490051.1
	BI524154.1
	BM993053.1
	BQ027183.1
	DB537043.1
	DQ884411.1
	J03517.1			AAA36634.1
	J03553.1			AAA36631.1
	KU178329.1
	KU178330.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv465613	Chr.8:22046701 - 22197835 on Build GRCh38	Loss	LGI3 FAM160B2 SFTPC NUDT18 BMP1 REEP4 HR FGF17 DMTN
nsv528590	Chr.8:22034428 - 22168131 on Build GRCh38	Loss	LGI3 NPM2 FAM160B2 SFTPC NUDT18 BMP1 REEP4 HR FGF17 DMTN
nsv527293	Chr.8:22106867 - 22163524 on Build GRCh38	Loss	LGI3 SFTPC NUDT18 REEP4 HR
nsv831263	Chr.8:22031088 - 22184413 on Build GRCh38	Loss	LGI3 NPM2 FAM160B2 SFTPC NUDT18 BMP1 REEP4 HR FGF17 DMTN
nsv470204	Chr.8:22094715 - 22171155 on Build GRCh38	Loss	LGI3 FAM160B2 SFTPC NUDT18 BMP1 REEP4 HR
dgv12054n54	Chr.8:22045805 - 22251098 on Build GRCh38	Loss	LGI3 FAM160B2 POLR3D SFTPC NUDT18 MIR320A PHYHIP BMP1 REEP4 HR FGF17 DMTN
nsv831264	Chr.8:22093700 - 22328040 on Build GRCh38	Gain+Loss	LGI3 FAM160B2 POLR3D SFTPC NUDT18 MIR320A PHYHIP PIWIL2 BMP1 LOC100507071 REEP4 HR
nsv610771	Chr.8:22149780 - 22200609 on Build GRCh38	Loss	LGI3 SFTPC BMP1
esv2759604	Chr.8:20675533 - 23254096 on Build GRCh38	Loss	LGI3 LOC286059 NPM2 PEBP4 TNFRSF10D POLR3D BIN3 MIR320A PHYHIP TNFRSF10B XPO7 PIWIL2 LOC100507071 C8orf58 FGF17 RHOBTB2 CHMP7 LOC107984124 LOC102467222 LOC107986876 CCAR2 BMP1 REEP4 HR LOC254896 SORBS3 LOC101929172 BIN3-IT1 SFTPC NUDT18 SLC39A14 TNFRSF10A PPP3CC DMTN PDLIM2 FAM160B2 DOK2 LOC389641 LOC286114 GFRA2 LOC101929237 EGR3 TNFRSF10C

More Information

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

Panther Classification:

Molecular Function -

structural protein, surfactant

Gene Ontology Categories:

Process(es)

respiratory gaseous exchange
cellular protein metabolic process

Function(s)

protein binding