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
nsv528590	Chr.8:22034428 - 22168131 on Build GRCh38	Loss	BMP1 SFTPC NPM2 NUDT18 REEP4 LGI3 FAM160B2 FGF17 DMTN HR
nsv465613	Chr.8:22046701 - 22197835 on Build GRCh38	Loss	BMP1 SFTPC NUDT18 REEP4 LGI3 FAM160B2 FGF17 DMTN HR
dgv2060e212	Chr.8:22156088 - 22162384 on Build GRCh38	Loss	SFTPC LGI3
nsv527293	Chr.8:22106867 - 22163524 on Build GRCh38	Loss	SFTPC NUDT18 REEP4 LGI3 HR
nsv831263	Chr.8:22031088 - 22184413 on Build GRCh38	Loss	BMP1 SFTPC NPM2 NUDT18 REEP4 LGI3 FAM160B2 FGF17 DMTN HR
dgv881n27	Chr.8:22094715 - 22163524 on Build GRCh38	Loss	SFTPC NUDT18 REEP4 LGI3 FAM160B2 HR
dgv12054n54	Chr.8:22045805 - 22251098 on Build GRCh38	Loss	MIR320A BMP1 PHYHIP SFTPC NUDT18 REEP4 POLR3D LGI3 FAM160B2 FGF17 DMTN HR
nsv831264	Chr.8:22093700 - 22328040 on Build GRCh38	Gain+Loss	MIR320A BMP1 PHYHIP LOC100507071 SFTPC NUDT18 REEP4 POLR3D PIWIL2 LGI3 FAM160B2 HR
esv2759604	Chr.8:20675533 - 23254096 on Build GRCh38	Loss	TNFRSF10C BMP1 CHMP7 BIN3 NUDT18 REEP4 PPP3CC PIWIL2 LGI3 TNFRSF10D FAM160B2 PEBP4 DMTN XPO7 LOC254896 EGR3 TNFRSF10B NPM2 POLR3D RHOBTB2 C8orf58 CCAR2 LOC286114 PDLIM2 MIR320A PHYHIP SFTPC GFRA2 LOC102467222 DOK2 LOC286059 LOC101929237 FGF17 LOC107986876 BIN3-IT1 LOC107984124 LOC100507071 LOC101929172 SORBS3 TNFRSF10A LOC389641 HR SLC39A14
nsv610771	Chr.8:22149780 - 22200609 on Build GRCh38	Loss	BMP1 SFTPC LGI3

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