Hs00384973_cn

• Gene Symbol: PRSS50
• Assay Reference Genome Location: Chr.3:46715584 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 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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

proteolysis

Function(s)

serine-type endopeptidase activity
threonine-type endopeptidase activity