Hs00724742_cn

• Gene Symbol: SERPING1
• Assay Reference Genome Location: Chr.11:57597574 on build GRCh38
• Cytoband: 11q12.1

Target Gene Details

• Entrez Gene ID: 710
• Gene Name: serpin family G member 1
• Gene Aliases: C1IN, C1INH, C1NH, HAE1, HAE2
• Location: Chr.11:57597554-57614853 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SERPING1	NM_000062.2			NP_000053.2
	AL703442.1	1	66

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832163	Chr.11:57531881 - 57713578 on Build GRCh38	Gain	SMTNL1 MED19 TMX2 CLP1 MIR130A SERPING1 TMX2-CTNND1 ZDHHC5 UBE2L6 YPEL4
nsv1126294	Chr.11:57597027 - 57598327 on Build GRCh38	Deletion	SERPING1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

negative regulation of complement activation, lectin pathway
platelet degranulation
complement activation, classical pathway
aging
blood coagulation, intrinsic pathway
blood circulation
negative regulation of endopeptidase activity
fibrinolysis
innate immune response

Function(s)

serine-type endopeptidase inhibitor activity
protein binding