Assay Details
Target Gene Details
Entrez Gene ID: | 29122 |
Gene Name: | protease, serine 50 |
Gene Aliases: |
CT20, TSP50 |
Location: |
Chr.3:46712116-46717883 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PRSS50 | NM_013270.4 | 6 | 1125 | NP_037402.1 |
AF100707.1 | 6 | 1125 | AAF22500.1 | |
BC033016.1 | 6 | 1116 | AAH33016.1 | |
BC037775.2 | 6 | 1087 | AAH37775.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv516623 | Chr.3:46638573 - 46811189 on Build GRCh38 | Loss | PRSS45 PRSS43 TMIE ALS2CL PRSS50 PRSS46 |
esv3596066 | Chr.3:46626410 - 46715170 on Build GRCh38 | Gain | TMIE ALS2CL LOC100132146 PRSS50 |
nsv954478 | Chr.3:46657411 - 46717710 on Build GRCh38 | Deletion | TMIE ALS2CL PRSS50 |
nsv590179 | Chr.3:46687169 - 46748907 on Build GRCh38 | Loss | PRSS45 TMIE ALS2CL PRSS50 PRSS46 |
nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss | ELP6 SNORD13P3 TMIE KIF9-AS1 CSPG5 ALS2CL PRSS50 PRSS46 NRADDP CCDC12 SMARCC1 PRSS45 NBEAL2 PRSS43 SCAP KLHL18 MYL3 SETD2 PRSS42 KIF9 PTPN23 PTH1R |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |