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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 4,496.00
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Online offer:
4496.0
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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 CGB3 CGB8 LIN7B NTF4 C19orf73 RUVBL2 SNAR-G2 CGB1 LHB CGB7 SNAR-G1 CGB5 PPFIA3 MIR6798 KCNA7 SNRNP70 CGB2 HRC TRPM4 LOC101059948
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss FAM83E VRK3 SNAR-G2 SNAR-A7 KDELR1 HSD17B14 SNAR-A13 LOC105447645 LHB SNAR-A1 PRR12 CCDC114 PPFIA3 MIR6798 CABP5 MIR4751 CD37 BAX GRWD1 DBP ZNF114 AP2A1 NUCB1-AS1 DKKL1 GYS1 IZUMO1 PTOV1-AS2 SLC6A16 CPT1C TEAD2 MAMSTR LOC101059948 MIR4749 SNAR-A5 TULP2 CGB8 NTF4 SNAR-C5 SCAF1 C19orf73 IRF3 DHDH SNAR-C1 SNAR-A14 CGB1 SNORD34 CGB5 SPHK2 CA11 NTN5 ELSPBP1 KCNA7 SNORD32A FGF21 RPS11 ALDH16A1 TRPM4 RASIP1 LOC105372430 CGB3 LIN7B MIR5088 RPL18 RRAS SNAR-C3 SNAR-A2 SNAR-A9 SNORD35A SNRNP70 CGB2 EMP3 KCNJ14 TMEM143 BCL2L12 BCAT2 SNAR-B1 SNAR-C4 GRIN2D SEC1P PNKP PTOV1-AS1 FUZ GFY SPACA4 NOSIP CARD8-AS1 SNORD33 ZNF473 BSPH1 SNAR-A10 MIR4324 RPL13A AKT1S1 IL4I1 FLT3LG MIR4750 SLC17A7 SNAR-A4 CARD8 MED25 LIG1 MIR6800 PRMT1 SNAR-A11 FUT1 RCN3 SNORD35B CYTH2 SNAR-A6 SIGLEC11 CGB7 ADM5 SNAR-G1 LOC101928295 PLEKHA4 C19orf68 SULT2B1 NUCB1 PIH1D1 MIR150 LMTK3 PTH2 PPP1R15A SNAR-A8 FLJ26850 RUVBL2 SNAR-C2 NUP62 SIGLEC16 MIR6799 SNAR-B2 PTOV1 ATF5 FTL SNAR-A12 SNAR-D SYNGR4 LOC100287477 CCDC155 PLA2G4C FUT2 PRRG2 TBC1D17 TSKS HRC FCGRT PLA2G4C-AS1 SNAR-A3
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain RUVBL2 MIR6798 BAX LHB FTL LOC101059948 GYS1
esv2718697 Chr.19:49011365 - 49012395 on Build GRCh38 Deletion RUVBL2
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss CGB3 CGB8 LIN7B NTF4 C19orf73 RUVBL2 SNAR-G2 DHDH BAX CGB1 LHB CGB7 SNAR-G1 FTL CGB5 NUCB1-AS1 NUCB1 GYS1 PPFIA3 MIR6798 KCNA7 SNRNP70 CGB2 LOC101059948
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion CGB3 CGB8 NTF4 RUVBL2 SNAR-G2 BAX CGB1 LHB CGB7 SNAR-G1 FTL CGB5 GYS1 MIR6798 KCNA7 SNRNP70 CGB2 LOC101059948

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