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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MASP2 | NM_006610.3 | 5 | 720 | NP_006601.2 |
XM_017000097.1 | 5 | 720 | XP_016855586.1 | |
AK290823.1 | 5 | 720 | ||
X98400.1 | 5 | 724 | CAA67050.1 | |
Y09926.1 | 5 | 704 | 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 | TARDBP C1orf127 MASP2 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 | EXOSC10 UBIAD1 LOC105376736 ANGPTL7 TARDBP MTOR-AS1 MASP2 SRM MTOR |
esv25881 | Chr.1:11037505 - 11045994 on Build GRCh38 | Gain+Loss | MASP2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |