Hs01497541_cn

• Gene Symbol: PRSS48
• Assay Reference Genome Location: Chr.4:151282245 on build GRCh38
• Cytoband: 4q31.3

Target Gene Details

• Entrez Gene ID: 345062
• Gene Name: protease, serine 48
• Gene Aliases: ESSPL
• Location: Chr.4:151276482-151291856 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRSS48	NM_183375.2	3	313	NP_899231.2
	XM_011531921.2	2	759	XP_011530223.1
	XM_011531922.2			XP_011530224.1
	BC121109.1	3	317
	BC121110.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1028814	Chr.4:150874356 - 152285445 on Build GRCh38	Gain	RPS3A LOC100996286 PRSS48 FAM160A1 SH3D19 GATB SNORD73A LOC100505685 LRBA
esv3602679	Chr.4:151281489 - 151287564 on Build GRCh38	Loss	PRSS48

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

proteolysis

Function(s)

serine-type endopeptidase activity