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: | Overlaps Intron 3 - Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PRSS50 | NM_013270.4 | NP_037402.1 | ||
AF100707.1 | AAF22500.1 | |||
BC033016.1 | AAH33016.1 | |||
BC037775.2 | 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 | PRSS43 ALS2CL PRSS45 PRSS46 PRSS50 TMIE |
nsv954478 | Chr.3:46657411 - 46717710 on Build GRCh38 | Deletion | ALS2CL PRSS50 TMIE |
nsv590179 | Chr.3:46687169 - 46748907 on Build GRCh38 | Loss | ALS2CL PRSS45 PRSS46 PRSS50 TMIE |
nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss | PRSS43 ALS2CL SNORD13P3 SETD2 KLHL18 KIF9 PRSS50 PTPN23 TMIE SMARCC1 NBEAL2 MYL3 PRSS42 CCDC12 NRADDP PRSS45 KIF9-AS1 PRSS46 ELP6 SCAP CSPG5 PTH1R |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |