Hs02010573_cn

• Gene Symbol: MASP2
• Assay Reference Genome Location: Chr.1:11043531 on build GRCh38
• Cytoband: 1p36.22

Target Gene Details

• Entrez Gene ID: 10747
• Gene Name: mannan binding lectin serine peptidase 2
• Gene Aliases: MAP19, MASP-2, MASP1P1, sMAP
• Location: Chr.1:11026523-11047239 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MASP2	NM_006610.3			NP_006601.2
	XM_017000097.1			XP_016855586.1
	AK290823.1
	X98400.1			CAA67050.1
	Y09926.1			CAA71059.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832425	Chr.1:10843788 - 11062918 on Build GRCh38	Loss	MASP2 TARDBP C1orf127 SRM
esv2660954	Chr.1:11037555 - 11046258 on Build GRCh38	Deletion	MASP2
esv3585212	Chr.1:11037585 - 11046365 on Build GRCh38	Loss	MASP2
nsv953456	Chr.1:11038744 - 11060143 on Build GRCh38	Deletion	MASP2 SRM
nsv545407	Chr.1:11000018 - 11377969 on Build GRCh38	Gain	MTOR-AS1 MTOR LOC105376736 MASP2 EXOSC10 TARDBP UBIAD1 ANGPTL7 SRM
esv25881	Chr.1:11037505 - 11045994 on Build GRCh38	Gain+Loss	MASP2

More Information

Additional Information:

For this assay, SNP(s) [rs78775425] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

complement activation, lectin pathway
proteolysis
complement activation
complement activation, classical pathway

Function(s)

complement component C4b binding
serine-type endopeptidase activity
calcium ion binding
protein binding
peptidase activity
calcium-dependent protein binding