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See other MASP2 CNV Assays ›
Gene Symbol
MASP2
Assay Reference Genome
Location

Chr.1:11030798 on build GRCh38
Cytoband
1p36.22
Assay ID Hs00315864_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details

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:

Within Exon 10
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MASP2 NM_006610.3 9 1204 NP_006601.2
AK290823.1 9 1204
X98400.1 9 1208 CAA67050.1
Y09926.1 9 1188 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 SRM MASP2 C1orf127 TARDBP
nsv545407 Chr.1:11000018 - 11377969 on Build GRCh38 Gain SRM EXOSC10 MASP2 ANGPTL7 MTOR LOC105376736 TARDBP UBIAD1 MTOR-AS1

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More Information


Set Membership:

Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Function(s) Process(es)

complement activation, lectin pathway
proteolysis
complement activation
complement activation, classical pathway
complement component C4b binding
serine-type endopeptidase activity
calcium ion binding
protein binding
peptidase activity
calcium-dependent protein binding

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