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 Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MASP2 | NM_006610.3 | NP_006601.2 | ||
NM_139208.2 | NP_631947.1 | |||
XM_017000097.1 | XP_016855586.1 | |||
AB008047.1 | BAA78616.1 | |||
AK290823.1 | ||||
DA638135.1 | ||||
X98400.1 | CAA67050.1 | |||
Y09926.1 | CAA71059.1 | |||
Y18281.1 | CAB50728.1 | |||
Y18282.1 | CAB50729.1 | |||
Y18283.1 | CAB50730.1 | |||
Y18284.1 | 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 | SRM C1orf127 TARDBP MASP2 |
esv3585212 | Chr.1:11037585 - 11046365 on Build GRCh38 | Loss | MASP2 |
nsv953456 | Chr.1:11038744 - 11060143 on Build GRCh38 | Deletion | SRM MASP2 |
nsv545407 | Chr.1:11000018 - 11377969 on Build GRCh38 | Gain | MTOR ANGPTL7 LOC105376736 SRM EXOSC10 UBIAD1 MTOR-AS1 TARDBP MASP2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |