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