Hs00297371_cn

• Gene Symbol: PRSS50
• Assay Reference Genome Location: Chr.3:46712920 on build GRCh38
• Cytoband: 3p21.31

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 5 - Exon 5

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	TMIE ALS2CL PRSS46 PRSS50 PRSS43 PRSS45
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	TMIE ALS2CL PRSS46 PRSS50 PRSS45
nsv428417	Chr.3:46638962 - 47778557 on Build GRCh38	Loss	CSPG5 NRADDP MYL3 ALS2CL KLHL18 PRSS46 PTPN23 NBEAL2 PRSS43 PRSS45 SNORD13P3 PRSS42 TMIE SETD2 CCDC12 SMARCC1 KIF9 PRSS50 SCAP KIF9-AS1 ELP6 PTH1R

More Information

Additional Information:

For this assay, SNP(s) [rs114550038] 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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

proteolysis

Function(s)

serine-type endopeptidase activity
threonine-type endopeptidase activity