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 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ERCC2 | XM_011526611.2 | 22 | 3586 | XP_011524913.1 |
XM_017026467.1 | 22 | 3500 | XP_016881956.1 |
Target Gene Details
Entrez Gene ID: | 147700 |
Gene Name: | kinesin light chain 3 |
Gene Aliases: |
KLC2, KLC2L, KLCt, KNS2B |
Location: |
Chr.19:45340740-45351520 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 8 - Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KLC3 | NM_177417.2 | NP_803136.2 | ||
AK092481.1 | BAC03901.1 | |||
BC062998.1 | ||||
BC073841.1 | AAH73841.1 | |||
BC126418.1 | ||||
BC133037.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833845 | Chr.19:45308814 - 45457371 on Build GRCh38 | Loss |
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dgv29n64 | Chr.19:45334011 - 45373709 on Build GRCh38 | Gain |
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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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esv3644504 | Chr.19:45342675 - 45373732 on Build GRCh38 | Gain |
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nsv458711 | Chr.19:45323108 - 45408744 on Build GRCh38 | Gain |
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nsv1063547 | Chr.19:45322368 - 45400204 on Build GRCh38 | Gain |
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dgv3606n100 | Chr.19:45347435 - 45400204 on Build GRCh38 | Gain |
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nsv833844 | Chr.19:45181051 - 45384148 on Build GRCh38 | Loss |
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nsv1160648 | Chr.19:45347447 - 45368176 on Build GRCh38 | Duplication |
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nsv579868 | Chr.19:45334025 - 45359625 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)