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

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