Hs00104826_cn

• Gene Symbol: SFTPC
• Assay Reference Genome Location: Chr.8:22161777 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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SFTPC	NM_001172357.1	1	107	NP_001165828.1
	NM_001172410.1	1	107	NP_001165881.1
	NM_001317778.1	1	107	NP_001304707.1
	NM_001317779.1	1	107	NP_001304708.1
	NM_001317780.1	1	107	NP_001304709.1
	NM_003018.3	1	107	NP_003009.2
	XM_011544613.2	1	46	XP_011542915.1
	AK058094.1
	AK298119.1
	AK315742.1
	BC005913.1			AAH05913.1
	BG535994.1
	BG569816.1
	BI490051.1
	BI524154.1
	DQ884411.1
	J03517.1			AAA36634.1
	J03553.1	1	123	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
dgv2060e212	Chr.8:22156088 - 22162384 on Build GRCh38	Loss	LGI3 SFTPC
nsv465613	Chr.8:22046701 - 22197835 on Build GRCh38	Loss	REEP4 FGF17 HR NUDT18 FAM160B2 BMP1 DMTN LGI3 SFTPC
nsv528590	Chr.8:22034428 - 22168131 on Build GRCh38	Loss	REEP4 FGF17 HR NUDT18 FAM160B2 BMP1 DMTN LGI3 SFTPC NPM2
nsv527293	Chr.8:22106867 - 22163524 on Build GRCh38	Loss	REEP4 HR NUDT18 LGI3 SFTPC
nsv831263	Chr.8:22031088 - 22184413 on Build GRCh38	Loss	REEP4 FGF17 HR NUDT18 FAM160B2 BMP1 DMTN LGI3 SFTPC NPM2
nsv470204	Chr.8:22094715 - 22171155 on Build GRCh38	Loss	REEP4 HR NUDT18 FAM160B2 BMP1 LGI3 SFTPC
dgv12054n54	Chr.8:22045805 - 22251098 on Build GRCh38	Loss	REEP4 FGF17 PHYHIP POLR3D HR NUDT18 FAM160B2 BMP1 DMTN LGI3 MIR320A SFTPC
nsv831264	Chr.8:22093700 - 22328040 on Build GRCh38	Gain+Loss	REEP4 PHYHIP POLR3D HR LOC100507071 NUDT18 FAM160B2 BMP1 LGI3 MIR320A SFTPC PIWIL2
nsv610771	Chr.8:22149780 - 22200609 on Build GRCh38	Loss	BMP1 LGI3 SFTPC
esv2759604	Chr.8:20675533 - 23254096 on Build GRCh38	Loss	BIN3-IT1 PHYHIP POLR3D FAM160B2 PDLIM2 C8orf58 BMP1 LOC101929237 LOC286114 TNFRSF10C PEBP4 FGF17 BIN3 TNFRSF10D HR TNFRSF10B LOC100507071 NUDT18 LOC107986876 TNFRSF10A LOC102467222 CCAR2 SFTPC PIWIL2 GFRA2 SLC39A14 LOC389641 DOK2 LOC101929172 LGI3 MIR320A SORBS3 REEP4 CHMP7 LOC254896 EGR3 LOC107984124 PPP3CC XPO7 LOC286059 DMTN NPM2 RHOBTB2

More Information

• Set Membership: Intragenic, 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