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
nsv528590	Chr.8:22034428 - 22168131 on Build GRCh38	Loss	LGI3 DMTN FAM160B2 REEP4 NPM2 SFTPC FGF17 BMP1 HR NUDT18
nsv465613	Chr.8:22046701 - 22197835 on Build GRCh38	Loss	LGI3 DMTN FAM160B2 REEP4 SFTPC FGF17 BMP1 HR NUDT18
nsv527293	Chr.8:22106867 - 22163524 on Build GRCh38	Loss	LGI3 REEP4 SFTPC HR NUDT18
nsv831263	Chr.8:22031088 - 22184413 on Build GRCh38	Loss	LGI3 DMTN FAM160B2 REEP4 NPM2 SFTPC FGF17 BMP1 HR NUDT18
dgv881n27	Chr.8:22094715 - 22163524 on Build GRCh38	Loss	LGI3 FAM160B2 REEP4 SFTPC HR NUDT18
dgv12054n54	Chr.8:22045805 - 22251098 on Build GRCh38	Loss	LGI3 POLR3D DMTN PHYHIP MIR320A FAM160B2 REEP4 SFTPC FGF17 BMP1 HR NUDT18
nsv831264	Chr.8:22093700 - 22328040 on Build GRCh38	Gain+Loss	LGI3 LOC100507071 POLR3D PHYHIP MIR320A PIWIL2 FAM160B2 REEP4 SFTPC BMP1 HR NUDT18
esv2759604	Chr.8:20675533 - 23254096 on Build GRCh38	Loss	PEBP4 LGI3 CHMP7 LOC100507071 POLR3D TNFRSF10C LOC286059 SLC39A14 BIN3 CCAR2 NUDT18 LOC102467222 RHOBTB2 PDLIM2 MIR320A BIN3-IT1 PPP3CC LOC101929172 LOC254896 HR C8orf58 DOK2 TNFRSF10A SORBS3 PHYHIP PIWIL2 REEP4 NPM2 SFTPC FGF17 LOC286114 TNFRSF10D LOC389641 XPO7 LOC107986876 GFRA2 EGR3 DMTN FAM160B2 TNFRSF10B BMP1 LOC107984124 LOC101929237
nsv610771	Chr.8:22149780 - 22200609 on Build GRCh38	Loss	LGI3 SFTPC BMP1

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