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

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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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