Name: [Hs01399187_cn] [ERCC2]
Creator: Thermo Fisher Scientific
Keywords: [ERCC2] Assay, [ERCC excision repair 2, TFIIH core complex helicase subunit] Assay

Genomic Map

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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:	Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	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
	AK303358.1
	AL535248.3
	BC108255.1	AAI08256.1
	BC110522.1	AAI10523.1
	BC110523.1	AAI10524.1
	BG719746.1
	BM769772.1
	BT006883.1	AAP35529.1
	BX376468.2
	DA409300.1
	X52221.1	CAA36463.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833845	Chr.19:45308814 - 45457371 on Build GRCh38	Loss	CD3EAP ERCC1 KLC3 PPP1R13L CKM MIR6088 ERCC2
dgv29n64	Chr.19:45334011 - 45373709 on Build GRCh38	Gain	KLC3 ERCC2
esv3644502	Chr.19:45323147 - 45403933 on Build GRCh38	Gain	KLC3 PPP1R13L ERCC2
dgv1054e212	Chr.19:45347119 - 45407663 on Build GRCh38	Gain	CD3EAP ERCC1 KLC3 PPP1R13L ERCC2
esv3644504	Chr.19:45342675 - 45373732 on Build GRCh38	Gain	KLC3 ERCC2
nsv458711	Chr.19:45323108 - 45408744 on Build GRCh38	Gain	CD3EAP ERCC1 KLC3 PPP1R13L ERCC2
nsv1063547	Chr.19:45322368 - 45400204 on Build GRCh38	Gain	KLC3 PPP1R13L CKM ERCC2
dgv3606n100	Chr.19:45347435 - 45400204 on Build GRCh38	Gain	KLC3 PPP1R13L ERCC2
nsv833844	Chr.19:45181051 - 45384148 on Build GRCh38	Loss	BLOC1S3 KLC3 MARK4 PPP1R13L CKM EXOC3L2 ERCC2
nsv428365	Chr.19:45358027 - 45469089 on Build GRCh38	Gain+Loss	CD3EAP ERCC1 PPP1R13L FOSB MIR6088 ERCC2
nsv442466	Chr.19:45347447 - 45388666 on Build GRCh38	Gain	KLC3 PPP1R13L ERCC2