Assay Details
Target Gene Details
Entrez Gene ID: | 4153 |
Gene Name: | mannose binding lectin 2 |
Gene Aliases: |
COLEC1, HSMBPC, MBL, MBL2D, MBP, MBP-C, MBP1, MBPD |
Location: |
Chr.10:52764977-52772845 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBL2 | NM_000242.2 | 4 | 1245 | NP_000233.1 |
XM_006717861.3 | 5 | 1313 | XP_006717924.1 | |
XM_011539816.2 | 5 | 1297 | XP_011538118.1 | |
X15422.1 | 4 | 1245 | CAA33462.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1041917 | Chr.10:52741572 - 55682853 on Build GRCh38 | Loss |
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nsv437673 | Chr.10:52765749 - 52776791 on Build GRCh38 | Loss |
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nsv515970 | Chr.10:52764898 - 52771475 on Build GRCh38 | Gain+Loss |
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esv2666698 | Chr.10:52766742 - 52769474 on Build GRCh38 | Deletion |
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esv2761595 | Chr.10:52759208 - 52771925 on Build GRCh38 | Loss |
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dgv854n100 | Chr.10:52757467 - 52785830 on Build GRCh38 | Gain |
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esv3578899 | Chr.10:52761345 - 52773600 on Build GRCh38 | Loss |
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nsv518123 | Chr.10:52762874 - 52769497 on Build GRCh38 | Loss |
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esv24436 | Chr.10:52766865 - 52769490 on Build GRCh38 | Loss |
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nsv831876 | Chr.10:52732751 - 52889632 on Build GRCh38 | Gain |
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nsv1051777 | Chr.10:52761330 - 52802372 on Build GRCh38 | Gain |
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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)