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 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PRSS50 | NM_013270.4 | NP_037402.1 | ||
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 | PRSS46 PRSS43 PRSS45 ALS2CL PRSS50 TMIE |
esv3596066 | Chr.3:46626410 - 46715170 on Build GRCh38 | Gain | ALS2CL PRSS50 TMIE LOC100132146 |
nsv954478 | Chr.3:46657411 - 46717710 on Build GRCh38 | Deletion | ALS2CL PRSS50 TMIE |
nsv590179 | Chr.3:46687169 - 46748907 on Build GRCh38 | Loss | PRSS46 PRSS45 ALS2CL PRSS50 TMIE |
nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss | PRSS46 PRSS45 NBEAL2 PTH1R KLHL18 CCDC12 PRSS42 PRSS50 SETD2 MYL3 PTPN23 SMARCC1 NRADDP SNORD13P3 PRSS43 ELP6 KIF9 ALS2CL KIF9-AS1 CSPG5 SCAP TMIE |
More Information
Additional Information:
For this assay, SNP(s) [rs73831200] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Non-exonic DGV Variation |