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See other RUVBL2 CNV Assays ›
Gene Symbol
RUVBL2
Assay Reference Genome
Location

Chr.19:49012145 on build GRCh38
Cytoband
19q13.33
Assay ID Hs04013489_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 10856

Gene Name:

 RuvB like AAA ATPase 2

Gene Aliases:

 CGI-46, ECP-51, ECP51, INO80J, REPTIN, RVB2, TAP54-beta, TIH2, TIP48, TIP49B

Location:

 Chr.19:48993448-49015995 on Build GRCh38

Assay Gene Location:

 Within Intron 12
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RUVBL2 NM_001321190.1 NP_001308119.1
NM_001321191.1 NP_001308120.1
NM_006666.2 NP_006657.1
NR_135578.1
XM_011526330.1 XP_011524632.1
AB024301.1 BAA76708.1
AF124607.1 AAF87087.1
AF151804.1 AAD34041.1
AF155138.1 AAD38073.1
AK027762.1
AK057498.1
AK074542.1 BAC11048.1
AL136743.1 CAB66677.1
BC000428.2 AAH00428.1
BC004531.2 AAH04531.1
BC008355.1 AAH08355.1
CR533507.1 CAG38538.1
Y18417.1 CAB46270.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv833859 Chr.19:48997009 - 49173266 on Build GRCh38 Loss TRPM4 CGB5 SNAR-G1 LIN7B SNAR-G2 KCNA7 MIR6798 CGB8 SNRNP70 CGB7 LOC101059948 RUVBL2 PPFIA3 CGB3 LHB CGB1 NTF4 HRC C19orf73 CGB2
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss SLC17A7 NUP62 SNAR-G1 ALDH16A1 TEAD2 FUT1 SNORD33 SNORD32A KCNA7 VRK3 FAM83E SPACA4 MIR6798 NOSIP SNAR-A8 MIR6800 CGB7 MIR4751 AP2A1 HRC TULP2 ZNF473 SNAR-B1 PTOV1-AS2 LIN7B EMP3 GRIN2D SULT2B1 SNAR-A9 CGB8 TMEM143 PNKP FCGRT PIH1D1 SCAF1 LMTK3 MIR4749 PLA2G4C-AS1 RPS11 CGB2 SNAR-A6 BCAT2 FGF21 LOC105372430 SLC6A16 NUCB1-AS1 DHDH CD37 PPP1R15A LOC101059948 KDELR1 AKT1S1 PPFIA3 SNAR-D CABP5 SYNGR4 FUZ CCDC114 ATF5 SNAR-C2 GFY NUCB1 SNORD35B SNAR-B2 LOC101928295 IL4I1 BCL2L12 CGB3 LHB GRWD1 TBC1D17 SNAR-C5 SNAR-A2 SNAR-A3 RPL13A PTOV1-AS1 PRMT1 SNAR-A11 CYTH2 TSKS SNAR-C3 CA11 GYS1 SNRNP70 RRAS C19orf68 CARD8-AS1 LIG1 SNAR-A14 SIGLEC16 MIR5088 IZUMO1 TRPM4 CGB5 CCDC155 SNORD34 SNAR-A12 SNAR-G2 RPL18 MED25 FLJ26850 RCN3 SEC1P SIGLEC11 SNAR-A4 SPHK2 IRF3 ELSPBP1 CARD8 NTF4 PRRG2 ZNF114 FUT2 RASIP1 DKKL1 DBP MIR150 PLA2G4C MIR4324 FLT3LG CGB1 SNAR-A5 SNAR-C1 MAMSTR PLEKHA4 HSD17B14 KCNJ14 SNAR-A13 NTN5 SNAR-A10 LOC105447645 PTOV1 ADM5 BSPH1 LOC100287477 CPT1C SNAR-C4 MIR6799 FTL SNAR-A1 RUVBL2 PTH2 PRR12 SNAR-A7 MIR4750 BAX SNORD35A C19orf73
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain GYS1 FTL LOC101059948 RUVBL2 LHB BAX MIR6798
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss CGB5 SNAR-G1 LIN7B SNAR-G2 NUCB1-AS1 DHDH KCNA7 NUCB1 MIR6798 CGB8 GYS1 SNRNP70 FTL CGB7 LOC101059948 RUVBL2 PPFIA3 CGB3 LHB CGB1 BAX NTF4 C19orf73 CGB2
esv2718697 Chr.19:49011365 - 49012395 on Build GRCh38 Deletion RUVBL2
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion CGB5 SNAR-G1 SNAR-G2 KCNA7 MIR6798 CGB8 GYS1 SNRNP70 FTL CGB7 LOC101059948 RUVBL2 CGB3 LHB CGB1 BAX NTF4 CGB2

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