Name: [Hs07192010_cn] [RBCK1]
Creator: Thermo Fisher Scientific
Keywords: [RBCK1] Assay, [RANBP2-type and C3HC4-type zinc finger containing 1] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	10616
Gene Name:	RANBP2-type and C3HC4-type zinc finger containing 1
Gene Aliases:	C20orf18, HOIL-1, HOIL1, PBMEI, PGBM1, RBCK2, RNF54, UBCE7IP3, XAP3, XAP4, ZRANB4
Location:	Chr.20:408050-432139 on Build GRCh38
Assay Gene Location:	Within Intron 3

Gene Symbol	Transcript Accession	Protein ID
RBCK1	NM_001323956.1	NP_001310885.1
	NM_001323958.1	NP_001310887.1
	NM_006462.5	NP_006453.1
	NM_031229.3	NP_112506.2
	NR_136659.1
	XM_005260645.1	XP_005260702.1
	XM_011529137.1	XP_011527439.1
	XM_011529138.1	XP_011527440.1
	XM_011529139.2	XP_011527441.1
	XM_011529140.1	XP_011527442.1
	XM_017027594.1	XP_016883083.1
	XM_017027595.1	XP_016883084.1
	AB107766.1	BAC75409.1
	AK297524.1
	AK303357.1
	BC015219.2	AAH15219.2
	U67322.1	AAD00162.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3644953	Chr.20:397290 - 502310 on Build GRCh38	Gain	TBC1D20 RBCK1 TRIB3 CSNK2A1
esv3644952	Chr.20:386013 - 1119183 on Build GRCh38	Gain	TBC1D20 PSMF1 FAM110A RSPO4 SRXN1 SLC52A3 CSNK2A1 TCF15 ANGPT4 RBCK1 SCRT2 TRIB3 LOC105372493
esv3644956	Chr.20:405365 - 446917 on Build GRCh38	Gain	TBC1D20 RBCK1
nsv1056266	Chr.20:401152 - 522755 on Build GRCh38	Gain	TBC1D20 RBCK1 CSNK2A1
nsv510777	Chr.20:366849 - 416704 on Build GRCh38	Deletion	RBCK1 TRIB3
nsv585170	Chr.20:380145 - 422066 on Build GRCh38	Loss	RBCK1 TRIB3
dgv4219n100	Chr.20:80652 - 461103 on Build GRCh38	Gain	TBC1D20 DEFB132 NRSN2-AS1 LOC101929937 DEFB127 ZCCHC3 DEFB128 DEFB125 RBCK1 SOX12 DEFB126 TRIB3 DEFB129 C20orf96 NRSN2
esv3893263	Chr.20:216521 - 434561 on Build GRCh38	Loss	DEFB132 RBCK1 SOX12 TRIB3 NRSN2-AS1 LOC101929937 ZCCHC3 DEFB129 C20orf96 NRSN2