Hs05312513_cn

• Gene Symbol: SERPINA1
• Assay Reference Genome Location: Chr.14:94389658 on build GRCh38
• Cytoband: 14q32.13

Target Gene Details

• Entrez Gene ID: 5265
• Gene Name: serpin family A member 1
• Gene Aliases: A1A, A1AT, AAT, PI, PI1, PRO2275, alpha1AT
• Location: Chr.14:94376747-94390692 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SERPINA1	NM_001002235.2			NP_001002235.1
	NM_001002236.2			NP_001002236.1
	NM_001127700.1			NP_001121172.1
	NM_001127701.1			NP_001121173.1
	NM_001127702.1			NP_001121174.1
	NM_001127703.1			NP_001121175.1
	NM_001127704.1			NP_001121176.1
	NM_001127705.1			NP_001121177.1
	NM_001127706.1			NP_001121178.1
	NM_001127707.1			NP_001121179.1
	XM_017021370.1			XP_016876859.1
	AA317159.1
	AK315637.1
	BG483969.1
	BP296710.1
	BP300943.1
	BP301274.1
	BX161449.1			CAD61914.1
	BX247968.1			CAD62306.1
	CD685665.1
	DA427262.1
	DA428299.1
	DA433050.1
	DA433058.1
	DA672472.1
	DA675981.1
	X05826.1			CAA29267.1
	X05827.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509545	Chr.14:94360156 - 94400412 on Build GRCh38	Insertion	SERPINA2 SERPINA1
nsv832863	Chr.14:94348482 - 94501487 on Build GRCh38	Gain	SERPINA12 SERPINA2 SERPINA9 SERPINA1 SERPINA11
nsv470662	Chr.14:94296542 - 94798793 on Build GRCh38	Gain	SERPINA12 SERPINA2 SERPINA9 SERPINA6 SERPINA5 SERPINA1 SERPINA13P SERPINA3 GSC SERPINA4 SERPINA11
nsv1406	Chr.14:94361166 - 94394512 on Build GRCh38	Insertion	SERPINA2 SERPINA1
nsv832864	Chr.14:94362101 - 94538150 on Build GRCh38	Loss	SERPINA12 SERPINA2 SERPINA9 SERPINA1 SERPINA11

More Information

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

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

platelet degranulation
ER to Golgi vesicle-mediated transport
acute-phase response
blood coagulation
negative regulation of endopeptidase activity
COPII vesicle coating

Function(s)

glycoprotein binding
protease binding
serine-type endopeptidase inhibitor activity
protein binding
identical protein binding