Assay Details
Target Gene Details
Entrez Gene ID: | 5648 |
Gene Name: | mannan binding lectin serine peptidase 1 |
Gene Aliases: |
3MC1, CRARF, CRARF1, MAP1, MASP, MASP3, MAp44, PRSS5, RaRF |
Location: |
Chr.3:187216085-187292220 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MASP1 | NM_001879.5 | 16 | 2603 | NP_001870.3 |
XM_011512990.2 | 16 | 2597 | XP_011511292.1 | |
XM_017006870.1 | 15 | 2569 | XP_016862359.1 | |
XM_017006871.1 | 15 | 2459 | XP_016862360.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1014596 | Chr.3:187106902 - 187410668 on Build GRCh38 | Gain |
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esv23875 | Chr.3:187188590 - 187250892 on Build GRCh38 | Gain |
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nsv508264 | Chr.3:187169641 - 187226709 on Build GRCh38 | Deletion |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)