Hs07226373_cn

• Gene Symbol: SFTPC
• Assay Reference Genome Location: Chr.8:22163064 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
	BG535994.1
	BG569816.1
	BI490051.1
	BI524154.1
	BM993053.1
	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	BMP1 REEP4 FGF17 NUDT18 HR DMTN LGI3 FAM160B2 SFTPC
nsv528590	Chr.8:22034428 - 22168131 on Build GRCh38	Loss	BMP1 NPM2 REEP4 FGF17 NUDT18 HR DMTN LGI3 FAM160B2 SFTPC
nsv527293	Chr.8:22106867 - 22163524 on Build GRCh38	Loss	REEP4 NUDT18 HR LGI3 SFTPC
nsv831263	Chr.8:22031088 - 22184413 on Build GRCh38	Loss	BMP1 NPM2 REEP4 FGF17 NUDT18 HR DMTN LGI3 FAM160B2 SFTPC
nsv470204	Chr.8:22094715 - 22171155 on Build GRCh38	Loss	BMP1 REEP4 NUDT18 HR LGI3 FAM160B2 SFTPC
dgv12054n54	Chr.8:22045805 - 22251098 on Build GRCh38	Loss	PHYHIP BMP1 REEP4 FGF17 POLR3D NUDT18 MIR320A HR DMTN LGI3 FAM160B2 SFTPC
nsv831264	Chr.8:22093700 - 22328040 on Build GRCh38	Gain+Loss	PHYHIP LOC100507071 BMP1 REEP4 POLR3D NUDT18 MIR320A HR PIWIL2 LGI3 FAM160B2 SFTPC
nsv610771	Chr.8:22149780 - 22200609 on Build GRCh38	Loss	BMP1 LGI3 SFTPC
esv2759604	Chr.8:20675533 - 23254096 on Build GRCh38	Loss	LOC286059 PEBP4 RHOBTB2 GFRA2 NPM2 EGR3 PPP3CC POLR3D NUDT18 TNFRSF10C TNFRSF10D PIWIL2 DMTN SFTPC LOC102467222 BIN3 BMP1 LGI3 CHMP7 C8orf58 LOC107984124 XPO7 LOC101929237 REEP4 PDLIM2 LOC254896 SORBS3 CCAR2 MIR320A DOK2 FAM160B2 PHYHIP LOC389641 LOC286114 LOC107986876 LOC100507071 SLC39A14 FGF17 TNFRSF10A BIN3-IT1 HR LOC101929172 TNFRSF10B

More Information

Additional Information:

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

Panther Classification:

Molecular Function -

structural protein, surfactant

Gene Ontology Categories:

Process(es)

respiratory gaseous exchange
cellular protein metabolic process

Function(s)

protein binding