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

Chr.1:11046646 on build GRCh38
Cytoband
1p36.22
Assay ID Hs01911370_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 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MASP2 NM_006610.3 3 354 NP_006601.2
NM_139208.2 3 354 NP_631947.1
XM_017000097.1 3 354 XP_016855586.1
AB008047.1 3 348 BAA78616.1
AK290823.1 3 354
DA638135.1 3 354
X98400.1 3 358 CAA67050.1
Y09926.1 3 338 CAA71059.1
Y18281.1 3 343 CAB50728.1
Y18282.1 2 292 CAB50729.1
Y18283.1 3 337 CAB50730.1
Y18284.1 3 343 CAB50731.1

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 C1orf127 TARDBP SRM
nsv953456 Chr.1:11038744 - 11060143 on Build GRCh38 Deletion MASP2 SRM
nsv545407 Chr.1:11000018 - 11377969 on Build GRCh38 Gain MTOR-AS1 UBIAD1 MASP2 LOC105376736 ANGPTL7 TARDBP SRM EXOSC10 MTOR

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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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