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: | Overlaps Intron 5 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MASP2 | NM_006610.3 | NP_006601.2 | ||
XM_017000097.1 | XP_016855586.1 | |||
AK290823.1 | ||||
X98400.1 | CAA67050.1 | |||
Y09926.1 | 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 | MASP2 TARDBP C1orf127 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 | MTOR-AS1 MTOR LOC105376736 MASP2 EXOSC10 TARDBP UBIAD1 ANGPTL7 SRM |
esv25881 | Chr.1:11037505 - 11045994 on Build GRCh38 | Gain+Loss | MASP2 |
More Information
Additional Information:
For this assay, SNP(s) [rs78775425] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Non-exonic DGV Variation |