Assay Details
Target Gene Details
Entrez Gene ID: | 2202 |
Gene Name: | EGF containing fibulin like extracellular matrix protein 1 |
Gene Aliases: |
DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5 |
Location: |
Chr.2:55865962-55924163 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFEMP1 | NM_001039348.2 | 12 | 2352 | NP_001034437.1 |
NM_001039349.2 | 11 | 2311 | NP_001034438.1 | |
XM_005264205.4 | 10 | 2112 | XP_005264262.1 | |
XM_017003586.1 | 9 | 2047 | XP_016859075.1 | |
AA704122.1 | 1 | 212 | ||
AK092854.1 | 13 | 1737 | ||
AK293058.1 | ||||
AK301402.1 | 9 | 1717 | ||
BC014410.1 | 11 | 1915 | AAH14410.1 | |
BC098561.1 | 12 | 1963 | AAH98561.1 | |
BU683304.1 | ||||
U03877.1 | 9 | 1770 | AAA65590.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3575244 | Chr.2:55522427 - 56940881 on Build GRCh38 | Gain |
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esv3583831 | Chr.2:55813097 - 55892413 on Build GRCh38 | Loss |
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esv3892437 | Chr.2:55865477 - 55885305 on Build GRCh38 | Loss |
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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)