Assay Details
Target Gene Details
Entrez Gene ID: | 2068 |
Gene Name: | ERCC excision repair 2, TFIIH core complex helicase subunit |
Gene Aliases: |
COFS2, EM9, TFIIH, TTD, TTD1, XPD |
Location: |
Chr.19:45349837-45370647 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ERCC2 | NM_000400.3 | 11 | 1052 | NP_000391.1 |
NM_001130867.1 | 10 | 1355 | NP_001124339.1 | |
XM_011526611.2 | 10 | 1034 | XP_011524913.1 | |
XM_017026467.1 | 10 | 948 | XP_016881956.1 | |
AK303358.1 | 8 | 664 | ||
BC108255.1 | 11 | 1015 | AAI08256.1 | |
BC110522.1 | 9 | 799 | AAI10523.1 | |
BC110523.1 | 11 | 1033 | AAI10524.1 | |
BT006883.1 | 10 | 933 | AAP35529.1 | |
X52221.1 | 10 | 1686 | CAA36463.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv29n64 | Chr.19:45334011 - 45373709 on Build GRCh38 | Gain |
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nsv1063547 | Chr.19:45322368 - 45400204 on Build GRCh38 | Gain |
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nsv833844 | Chr.19:45181051 - 45384148 on Build GRCh38 | Loss |
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dgv3606n100 | Chr.19:45347435 - 45400204 on Build GRCh38 | Gain |
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nsv428365 | Chr.19:45358027 - 45469089 on Build GRCh38 | Gain+Loss |
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nsv1160648 | Chr.19:45347447 - 45368176 on Build GRCh38 | Duplication |
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nsv833845 | Chr.19:45308814 - 45457371 on Build GRCh38 | Loss |
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nsv515681 | Chr.19:45352886 - 45364001 on Build GRCh38 | Loss |
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esv3644502 | Chr.19:45323147 - 45403933 on Build GRCh38 | Gain |
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dgv1054e212 | Chr.19:45347119 - 45407663 on Build GRCh38 | Gain |
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nsv470146 | Chr.19:45323108 - 45373709 on Build GRCh38 | Loss |
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esv3644504 | Chr.19:45342675 - 45373732 on Build GRCh38 | Gain |
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nsv579869 | Chr.19:45356868 - 45365051 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)