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

Chr.19:49009791 on build GRCh38
Cytoband
19q13.33
Assay ID Hs01753421_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:

 Overlaps Intron 7 - Exon 8
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 MIR6798 CGB8 PPFIA3 CGB3 SNAR-G2 CGB2 SNAR-G1 KCNA7 LHB CGB1 LIN7B NTF4 CGB7 HRC TRPM4 CGB5 LOC101059948 SNRNP70 RUVBL2 C19orf73
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss ZNF114 GRWD1 KCNJ14 SNAR-C2 SNAR-C3 CGB2 FLJ26850 SLC17A7 NTN5 AP2A1 SNAR-A1 SNAR-B2 MIR4751 TSKS CGB1 MIR5088 HRC ATF5 PTOV1-AS1 LOC101059948 SPACA4 DBP MIR6798 GFY PTOV1 CARD8-AS1 CABP5 MIR6799 TEAD2 FUZ SNAR-A6 CCDC155 SNAR-A3 PRRG2 FAM83E HSD17B14 FGF21 SNAR-A11 SYNGR4 CGB7 CGB5 CD37 BAX CGB8 PRMT1 TULP2 SNAR-A2 RPL13A SNAR-D PRR12 SNAR-A9 SNAR-C5 SNAR-A14 DKKL1 NUCB1 SNAR-A10 SEC1P SNAR-A4 ALDH16A1 LOC105372430 SLC6A16 SCAF1 SNAR-A13 NUCB1-AS1 MIR6800 CA11 SIGLEC16 SNAR-C4 VRK3 BCL2L12 AKT1S1 EMP3 NUP62 GRIN2D SNAR-A12 SNAR-G1 C19orf68 LHB LIG1 LOC100287477 NTF4 CARD8 SNORD32A C19orf73 GYS1 RPS11 SNORD34 SNORD33 PLEKHA4 SNAR-A7 IRF3 ZNF473 MIR4324 MIR4749 PTH2 FCGRT MAMSTR TMEM143 MED25 LOC101928295 IL4I1 PNKP SNORD35A KDELR1 RASIP1 PPFIA3 SNAR-A5 CCDC114 FUT2 ELSPBP1 FLT3LG BCAT2 LIN7B ADM5 SNAR-A8 SNAR-B1 MIR4750 SNRNP70 PIH1D1 RPL18 LMTK3 FUT1 SNORD35B IZUMO1 TBC1D17 MIR150 RCN3 SNAR-C1 CYTH2 RUVBL2 PPP1R15A SIGLEC11 CGB3 SNAR-G2 NOSIP RRAS CPT1C PTOV1-AS2 FTL SPHK2 KCNA7 LOC105447645 SULT2B1 PLA2G4C BSPH1 TRPM4 PLA2G4C-AS1 DHDH
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain MIR6798 GYS1 FTL LHB LOC101059948 BAX RUVBL2
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss MIR6798 CGB8 GYS1 NUCB1-AS1 PPFIA3 CGB3 SNAR-G2 CGB2 NUCB1 SNAR-G1 FTL KCNA7 LHB CGB1 LIN7B NTF4 CGB7 CGB5 LOC101059948 BAX SNRNP70 RUVBL2 DHDH C19orf73
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion MIR6798 CGB8 GYS1 CGB3 SNAR-G2 CGB2 SNAR-G1 FTL KCNA7 LHB CGB1 NTF4 CGB7 CGB5 LOC101059948 BAX SNRNP70 RUVBL2

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More Information


Additional Information:

For this assay, SNP(s) [rs115058775] 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 Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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