Hs07146339_cn

• Gene Symbol: NAPSA
• Assay Reference Genome Location: Chr.19:50365836 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 9476
• Gene Name: napsin A aspartic peptidase
• Gene Aliases: KAP, Kdap, NAP1, NAPA, SNAPA
• Location: Chr.19:50358472-50369331 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NAPSA	NM_004851.2			NP_004842.1
	XM_011527540.1	2	348	XP_011525842.1
	XM_017027512.1	2	348	XP_016883001.1
	BI770845.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1066389	Chr.19:50319151 - 50453251 on Build GRCh38	Gain	NR1H2 NAPSB POLD1 SPIB KCNC3 MYBPC2 NAPSA
nsv2529	Chr.19:50336652 - 50368507 on Build GRCh38	Insertion	NAPSB NAPSA

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

proteolysis
protein catabolic process
membrane protein proteolysis
surfactant homeostasis
cellular protein metabolic process

Function(s)

endopeptidase activity
aspartic-type endopeptidase activity
peptidase activity