Assay Details
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 | |||
BF433929.1 | ||||
BG535994.1 | ||||
BG569816.1 | ||||
BI490051.1 | ||||
BI524154.1 | ||||
BM993053.1 | ||||
BQ027183.1 | ||||
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 | LGI3 FAM160B2 SFTPC NUDT18 BMP1 REEP4 HR FGF17 DMTN |
nsv528590 | Chr.8:22034428 - 22168131 on Build GRCh38 | Loss | LGI3 NPM2 FAM160B2 SFTPC NUDT18 BMP1 REEP4 HR FGF17 DMTN |
nsv527293 | Chr.8:22106867 - 22163524 on Build GRCh38 | Loss | LGI3 SFTPC NUDT18 REEP4 HR |
nsv831263 | Chr.8:22031088 - 22184413 on Build GRCh38 | Loss | LGI3 NPM2 FAM160B2 SFTPC NUDT18 BMP1 REEP4 HR FGF17 DMTN |
nsv470204 | Chr.8:22094715 - 22171155 on Build GRCh38 | Loss | LGI3 FAM160B2 SFTPC NUDT18 BMP1 REEP4 HR |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | LGI3 FAM160B2 POLR3D SFTPC NUDT18 MIR320A PHYHIP BMP1 REEP4 HR FGF17 DMTN |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | LGI3 FAM160B2 POLR3D SFTPC NUDT18 MIR320A PHYHIP PIWIL2 BMP1 LOC100507071 REEP4 HR |
nsv610771 | Chr.8:22149780 - 22200609 on Build GRCh38 | Loss | LGI3 SFTPC BMP1 |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | LGI3 LOC286059 NPM2 PEBP4 TNFRSF10D POLR3D BIN3 MIR320A PHYHIP TNFRSF10B XPO7 PIWIL2 LOC100507071 C8orf58 FGF17 RHOBTB2 CHMP7 LOC107984124 LOC102467222 LOC107986876 CCAR2 BMP1 REEP4 HR LOC254896 SORBS3 LOC101929172 BIN3-IT1 SFTPC NUDT18 SLC39A14 TNFRSF10A PPP3CC DMTN PDLIM2 FAM160B2 DOK2 LOC389641 LOC286114 GFRA2 LOC101929237 EGR3 TNFRSF10C |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |