Hs02216219_cn

• Gene Symbol: A2ML1
• Assay Reference Genome Location: Chr.12:8834688 on build GRCh38
• Cytoband: 12p13.31

Target Gene Details

• Entrez Gene ID: 144568
• Gene Name: alpha-2-macroglobulin like 1
• Gene Aliases: CPAMD9
• Location: Chr.12:8822472-8887202 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
A2ML1	NM_144670.5			NP_653271.2
	XM_011520566.2			XP_011518868.1
	XM_011520567.2			XP_011518869.1
	XM_017018868.1			XP_016874357.1
	XM_017018869.1			XP_016874358.1
	XM_017018870.1			XP_016874359.1
	AK122624.1			BAC85494.1
	AK123601.1
	AK290355.1
	AL832139.1
	AL833479.1
	BX648231.1
	DA436610.1
	DA456454.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1051530	Chr.12:8442286 - 9951690 on Build GRCh38	Gain	LOC105376678 A2ML1 CLEC12A LOC100506159 MFAP5 A2M-AS1 KLRF1 LOC642846 CLEC2A LOC101930452 A2M LOC101928030 M6PR CLEC4E MIR1244-3 CLEC2D CD69 KLRG1 LOC105369649 LINC00612 RIMKLB CLECL1 OVOS PZP LOC400002 LOC105369728 KLRF2 CLEC6A DDX12P AICDA A2MP1 LINC00987 KLRB1 LOC374443 CLEC4D LOC728715 CLEC2B PHC1
nsv521922	Chr.12:8833783 - 8839374 on Build GRCh38	Loss	A2ML1

More Information

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

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

negative regulation of endopeptidase activity
regulation of endopeptidase activity

Function(s)

serine-type endopeptidase inhibitor activity
peptidase inhibitor activity