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 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |