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

Chr.19:49015137 on build GRCh38
Cytoband
19q13.33
Assay ID Hs00578016_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:

 Overlaps Exon 14 - Intron 14
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 CGB5 LIN7B SNRNP70 LHB CGB2 C19orf73 SNAR-G2 CGB1 PPFIA3 CGB3 SNAR-G1 KCNA7 NTF4 HRC LOC101059948 RUVBL2 MIR6798 CGB8 TRPM4 CGB7
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss PTH2 ATF5 FTL SNAR-A1 AKT1S1 GRIN2D FUT1 RPL18 SEC1P TULP2 SNAR-A14 C19orf68 LHB AP2A1 ALDH16A1 NUP62 CGB3 SNAR-C4 BSPH1 NTN5 SPHK2 MIR6798 MIR4751 IL4I1 PRRG2 MIR4749 LOC100287477 CGB7 VRK3 PTOV1-AS1 SNAR-A5 PLA2G4C SNAR-A10 TBC1D17 RASIP1 SNAR-G2 CYTH2 RUVBL2 CARD8-AS1 SNORD32A CGB8 FUZ BAX PLA2G4C-AS1 PLEKHA4 MIR4324 LOC105372430 FLJ26850 HSD17B14 SLC6A16 NUCB1 CD37 GFY TEAD2 NTF4 LOC101059948 PPP1R15A LMTK3 SNAR-A9 ELSPBP1 SNAR-A2 MIR150 SULT2B1 MIR6799 RPS11 RPL13A CGB2 SNORD35B SNAR-A8 PIH1D1 PRMT1 SNAR-A11 CCDC114 SNAR-C2 GRWD1 EMP3 TRPM4 SNAR-B2 FLT3LG GYS1 CGB5 CPT1C SNORD33 CCDC155 LOC105447645 FAM83E MIR5088 SNAR-A6 HRC FCGRT SPACA4 TMEM143 FGF21 PNKP LIN7B NUCB1-AS1 KCNJ14 SNAR-A13 SNAR-B1 ZNF114 SLC17A7 SYNGR4 SCAF1 C19orf73 MIR6800 CA11 CGB1 DKKL1 RRAS SNAR-G1 PTOV1-AS2 MAMSTR KDELR1 SIGLEC16 PTOV1 SNORD35A RCN3 SNAR-A4 IRF3 CABP5 SIGLEC11 NOSIP DHDH LIG1 PPFIA3 FUT2 SNAR-D SNAR-A3 SNAR-C1 BCAT2 MED25 SNAR-C5 CARD8 ZNF473 SNRNP70 SNAR-A12 PRR12 IZUMO1 SNORD34 TSKS DBP ADM5 KCNA7 SNAR-C3 BCL2L12 LOC101928295 MIR4750 SNAR-A7
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain FTL LOC101059948 RUVBL2 MIR6798 LHB BAX GYS1
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss CGB5 LIN7B FTL NUCB1-AS1 SNRNP70 LHB CGB2 DHDH NUCB1 C19orf73 SNAR-G2 CGB1 PPFIA3 CGB3 SNAR-G1 KCNA7 NTF4 LOC101059948 RUVBL2 MIR6798 CGB8 BAX CGB7 GYS1
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion CGB5 FTL SNRNP70 LHB CGB2 SNAR-G2 CGB1 CGB3 SNAR-G1 KCNA7 NTF4 LOC101059948 RUVBL2 MIR6798 CGB8 BAX CGB7 GYS1

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