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

Chr.19:49008113 on build GRCh38
Cytoband
19q13.33
Assay ID Hs04486922_cn
Size
Availability Made To Order
Catalog # 4400291
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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 7
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
AK301344.1
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 CGB2 SNAR-G1 TRPM4 CGB7 C19orf73 PPFIA3 SNRNP70 CGB8 KCNA7 RUVBL2 HRC LIN7B NTF4 SNAR-G2 CGB5 MIR6798 LHB CGB3 LOC101059948 CGB1
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss MIR5088 NUCB1-AS1 FLT3LG MIR150 SIGLEC16 SNORD35A SNAR-B2 SNAR-A9 RRAS LOC105447645 SNAR-A4 NUCB1 RPS11 SNAR-G2 GRWD1 ELSPBP1 EMP3 AP2A1 CYTH2 PNKP RASIP1 SNAR-A14 SNAR-A3 SNAR-G1 SLC17A7 SNORD34 SNAR-A13 CGB7 FCGRT CCDC155 LMTK3 CARD8 NOSIP RPL18 DKKL1 SULT2B1 SNAR-C2 CD37 FTL MIR6798 LHB SNAR-A7 SNAR-A1 LOC101059948 CGB2 PLEKHA4 PTOV1-AS1 FAM83E PPFIA3 MIR4749 BSPH1 TBC1D17 PLA2G4C-AS1 DBP SNAR-C5 SLC6A16 ADM5 HRC GYS1 RPL13A CA11 SNAR-A11 AKT1S1 FUT1 ZNF114 CCDC114 PTH2 BCL2L12 MED25 SIGLEC11 VRK3 PPP1R15A MIR4750 SNAR-C3 IL4I1 MIR6800 LOC105372430 NTN5 SNAR-A10 SNAR-D CGB5 FGF21 KCNJ14 PRMT1 TEAD2 TMEM143 SNAR-A5 ZNF473 GRIN2D MIR4324 TULP2 RUVBL2 NTF4 SNAR-C1 GFY HSD17B14 BAX PRRG2 MAMSTR SNRNP70 CGB8 PRR12 SNORD33 SNAR-A12 KCNA7 SNAR-A2 TSKS KDELR1 FUZ LOC101928295 PTOV1-AS2 PTOV1 CGB3 MIR6799 MIR4751 PIH1D1 SNORD32A LIG1 CABP5 TRPM4 CPT1C C19orf68 SPACA4 FLJ26850 LIN7B IZUMO1 NUP62 PLA2G4C IRF3 SCAF1 DHDH SYNGR4 RCN3 SNAR-A6 FUT2 SNAR-A8 C19orf73 SNAR-C4 BCAT2 LOC100287477 SNAR-B1 CARD8-AS1 SNORD35B ALDH16A1 ATF5 SEC1P SPHK2 CGB1
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain BAX RUVBL2 GYS1 FTL MIR6798 LHB LOC101059948
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss CGB2 BAX SNAR-G1 NUCB1-AS1 CGB7 C19orf73 PPFIA3 SNRNP70 CGB8 KCNA7 NUCB1 RUVBL2 LIN7B NTF4 GYS1 SNAR-G2 CGB5 DHDH FTL MIR6798 LHB CGB3 LOC101059948 CGB1
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion CGB2 BAX SNAR-G1 CGB7 SNRNP70 CGB8 KCNA7 RUVBL2 NTF4 GYS1 SNAR-G2 CGB5 FTL MIR6798 LHB CGB3 LOC101059948 CGB1

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More Information


Additional Information:

For this assay, SNP(s) [rs77078012] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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