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

Chr.19:49015607 on build GRCh38
Cytoband
19q13.33
Assay ID Hs01921642_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 Exon 15
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RUVBL2 NM_001321190.1 14 1821 NP_001308119.1
NM_001321191.1 14 1730 NP_001308120.1
NM_006666.2 14 1751 NP_006657.1
NR_135578.1 14 1740
XM_011526330.1 14 1664 XP_011524632.1
AB024301.1 14 1300 BAA76708.1
AF124607.1 14 1308 AAF87087.1
AF151804.1 14 1292 AAD34041.1
AF155138.1 14 1293 AAD38073.1
AK027762.1 14 1371
AK057498.1 14 2298
AK074542.1 14 1301 BAC11048.1
AL136743.1 13 1290 CAB66677.1
BC000428.2 14 1292 AAH00428.1
BC004531.2 14 1300 AAH04531.1
BC008355.1 14 1289 AAH08355.1
CR533507.1 13 1287 CAG38538.1
Y18417.1 14 1292 CAB46270.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv22462 Chr.19:49015591 - 49056682 on Build GRCh38 Gain CGB8 CGB7 CGB5 LOC101059948 SNAR-G2 CGB1 CGB3 SNAR-G1 RUVBL2 CGB2 LHB
nsv833859 Chr.19:48997009 - 49173266 on Build GRCh38 Loss MIR6798 CGB8 SNRNP70 LIN7B LOC101059948 CGB1 CGB3 SNAR-G1 PPFIA3 C19orf73 LHB NTF4 CGB7 HRC CGB5 SNAR-G2 RUVBL2 CGB2 TRPM4 KCNA7
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss SNAR-C1 CGB8 FAM83E CA11 MIR4750 SNORD33 ADM5 FLJ26850 MIR4749 TEAD2 CCDC155 SNAR-A4 PTOV1-AS2 LOC101928295 RPL13A BAX TBC1D17 FUT1 LMTK3 SCAF1 CARD8-AS1 SIGLEC11 SPHK2 VRK3 SNAR-G1 PPP1R15A PPFIA3 LOC100287477 SNAR-A9 SNORD35B PRRG2 C19orf73 GYS1 CPT1C CD37 RUVBL2 CGB2 TRPM4 SNAR-A6 RCN3 RASIP1 IRF3 SNAR-B1 CABP5 ATF5 SNAR-A5 FLT3LG NUCB1 IL4I1 SULT2B1 NTF4 PTOV1-AS1 MIR6800 SNAR-C5 SNAR-A11 CGB5 MAMSTR IZUMO1 PRR12 PLA2G4C BCAT2 SNAR-B2 SEC1P DBP CGB3 SPACA4 LOC105447645 MIR4324 TSKS BCL2L12 NUCB1-AS1 CCDC114 GRIN2D ZNF473 MIR6798 PRMT1 SNAR-A13 TMEM143 SLC6A16 NTN5 SNAR-A2 LIG1 SNAR-C4 PIH1D1 SNAR-C3 SNAR-A12 FCGRT MIR5088 SNAR-A10 SNAR-A14 LOC101059948 LOC105372430 GRWD1 SNAR-A3 SNORD35A PTOV1 MIR6799 SNAR-D FTL ALDH16A1 RPL18 KDELR1 NOSIP PLA2G4C-AS1 FUZ KCNA7 SNORD34 FGF21 SYNGR4 BSPH1 LIN7B ELSPBP1 SNORD32A MIR4751 PNKP AP2A1 SNAR-A1 EMP3 SNAR-G2 SNAR-A7 HSD17B14 CARD8 TULP2 RPS11 PLEKHA4 RRAS SNRNP70 AKT1S1 CYTH2 CGB1 C19orf68 KCNJ14 MIR150 SIGLEC16 LHB ZNF114 CGB7 HRC PTH2 DHDH NUP62 FUT2 SNAR-A8 SNAR-C2 MED25 DKKL1 SLC17A7 GFY
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain MIR6798 FTL LOC101059948 RUVBL2 LHB GYS1 BAX
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss MIR6798 CGB8 SNRNP70 LIN7B LOC101059948 CGB1 CGB3 NUCB1 SNAR-G1 PPFIA3 C19orf73 LHB GYS1 NTF4 FTL CGB7 NUCB1-AS1 CGB5 DHDH SNAR-G2 RUVBL2 CGB2 KCNA7 BAX
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion MIR6798 CGB8 SNRNP70 LOC101059948 CGB1 CGB3 SNAR-G1 LHB GYS1 NTF4 FTL CGB7 CGB5 SNAR-G2 RUVBL2 CGB2 KCNA7 BAX

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