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See other ERCC2 CNV Assays ›
Gene Symbol
ERCC2
Assay Reference Genome
Location

Chr.19:45359370 on build GRCh38
Cytoband
19q13.32
Assay ID Hs04486408_cn
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Availability Made To Order
Catalog # 4400291
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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 Intron 11
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ERCC2 NM_000400.3 NP_000391.1
NM_001130867.1 NP_001124339.1
XM_011526611.2 XP_011524913.1
XM_017026467.1 XP_016881956.1
AK130849.1 BAC85446.1
BC108255.1 AAI08256.1
BC110522.1 AAI10523.1
BC110523.1 AAI10524.1
BT006883.1 AAP35529.1
X52221.1 CAA36463.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1160649 Chr.19:45353791 - 45361633 on Build GRCh38 Duplication ERCC2
dgv29n64 Chr.19:45334011 - 45373709 on Build GRCh38 Gain KLC3 ERCC2
nsv1063547 Chr.19:45322368 - 45400204 on Build GRCh38 Gain KLC3 CKM ERCC2 PPP1R13L
dgv3606n100 Chr.19:45347435 - 45400204 on Build GRCh38 Gain KLC3 ERCC2 PPP1R13L
nsv833844 Chr.19:45181051 - 45384148 on Build GRCh38 Loss KLC3 MARK4 BLOC1S3 CKM ERCC2 PPP1R13L EXOC3L2
nsv428365 Chr.19:45358027 - 45469089 on Build GRCh38 Gain+Loss ERCC1 MIR6088 FOSB ERCC2 PPP1R13L CD3EAP
nsv1160648 Chr.19:45347447 - 45368176 on Build GRCh38 Duplication KLC3 ERCC2
nsv579868 Chr.19:45334025 - 45359625 on Build GRCh38 Gain KLC3 ERCC2
nsv833845 Chr.19:45308814 - 45457371 on Build GRCh38 Loss ERCC1 MIR6088 KLC3 CKM ERCC2 PPP1R13L CD3EAP
nsv515681 Chr.19:45352886 - 45364001 on Build GRCh38 Loss ERCC2
esv3644502 Chr.19:45323147 - 45403933 on Build GRCh38 Gain KLC3 ERCC2 PPP1R13L
dgv1054e212 Chr.19:45347119 - 45407663 on Build GRCh38 Gain ERCC1 KLC3 ERCC2 PPP1R13L CD3EAP
esv3644504 Chr.19:45342675 - 45373732 on Build GRCh38 Gain KLC3 ERCC2
nsv458711 Chr.19:45323108 - 45408744 on Build GRCh38 Gain ERCC1 KLC3 ERCC2 PPP1R13L CD3EAP
nsv579869 Chr.19:45356868 - 45365051 on Build GRCh38 Loss ERCC2

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

DNA helicase

Gene Ontology Categories:

Function(s) Process(es)


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