Hs00009186_cn

• Gene Symbol: SFTPC
• Assay Reference Genome Location: Chr.8:22162695 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SFTPC	NM_001172357.1	2	322	NP_001165828.1
	NM_001172410.1	2	322	NP_001165881.1
	NM_001317778.1	2	322	NP_001304707.1
	NM_001317779.1			NP_001304708.1
	NM_001317780.1	2	322	NP_001304709.1
	NM_003018.3	2	322	NP_003009.2
	XM_011544613.2			XP_011542915.1
	AK058094.1	5	1014
	AK298119.1	2	193
	AK315742.1	2	196
	BC005913.1	2	195	AAH05913.1
	BG535994.1	2	199
	BG569816.1	2	199
	BI490051.1
	BI524154.1	2	179
	BM993053.1
	DQ884411.1	2	164
	J03517.1	2	191	AAA36634.1
	J03553.1	2	338	AAA36631.1
	KU178329.1	2	164
	KU178330.1	2	164

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