Hs07138917_cn

• Gene Symbol: NAPSA
• Assay Reference Genome Location: Chr.19:50363152 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NAPSA	NM_004851.2			NP_004842.1
	XM_011527540.1			XP_011525842.1
	XM_017027512.1			XP_016883001.1
	AF090386.1			AAD04917.1
	AF098484.1			AAD13215.1
	AF200345.1			AAF17081.1
	AK308013.1
	AK314364.1
	BC017842.1			AAH17842.1
	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	KCNC3 NAPSB SPIB NR1H2 POLD1 MYBPC2 NAPSA
nsv2529	Chr.19:50336652 - 50368507 on Build GRCh38	Insertion	NAPSB NAPSA

More Information

• Set Membership: Intragenic, Intronic, Non-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