Hs03682597_cn

• Gene Symbol: SFTPC
• Assay Reference Genome Location: Chr.8:22164487 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 - Exon 5

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
	BC005913.1			AAH05913.1
	BF433929.1
	BI490051.1
	BM993053.1
	BQ027183.1
	DB537043.1
	J03517.1			AAA36634.1
	J03553.1			AAA36631.1

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

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