Genomic Map
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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 2 |
| 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 | ||||
| BC000428.2 | AAH00428.1 | |||
| BC004531.2 | AAH04531.1 | |||
| BC008355.1 | AAH08355.1 | |||
| 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 |
 NTF4
MIR6798
LIN7B
CGB8
CGB7
PPFIA3
C19orf73
CGB1
LOC101059948
KCNA7
CGB3
TRPM4
SNAR-G1
HRC
SNAR-G2
CGB5
LHB
CGB2
SNRNP70
RUVBL2
|
| nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss |
SNAR-C5
TMEM143
SNAR-A7
FLJ26850
RPS11
SNAR-A1
CARD8
CGB7
ATF5
C19orf73
NUCB1
IZUMO1
AKT1S1
GYS1
FUT2
HRC
SNAR-A12
SIGLEC16
NTN5
C19orf68
NOSIP
SNAR-D
ZNF473
MIR6799
LIG1
AP2A1
MIR6800
SULT2B1
DBP
SNAR-G2
SNAR-A2
PIH1D1
SNAR-A8
SNRNP70
TULP2
GRWD1
PRRG2
MIR6798
PPP1R15A
BAX
SYNGR4
SNAR-A6
GRIN2D
SNAR-A5
CGB1
LMTK3
PNKP
SNAR-A13
SNORD32A
FAM83E
KCNA7
MED25
SNAR-C3
BSPH1
BCAT2
MAMSTR
CGB5
MIR5088
TEAD2
CPT1C
RPL18
GFY
DKKL1
FUT1
PPFIA3
CABP5
SNAR-C2
TSKS
HSD17B14
CGB2
SPACA4
SNORD33
SNORD35A
SNAR-B2
PTOV1
MIR4751
SNAR-A14
SIGLEC11
SNAR-C4
SNAR-A9
RPL13A
LOC100287477
CGB3
PTH2
MIR4324
SLC17A7
CD37
CARD8-AS1
SNAR-A4
ADM5
LOC105447645
RUVBL2
NUP62
TBC1D17
RCN3
MIR150
MIR4750
CYTH2
KDELR1
PTOV1-AS2
CCDC114
SLC6A16
PLA2G4C
EMP3
PRMT1
SEC1P
PTOV1-AS1
IRF3
MIR4749
SNAR-C1
TRPM4
FLT3LG
SCAF1
NTF4
ALDH16A1
ZNF114
SNORD34
PLEKHA4
LIN7B
FGF21
FTL
BCL2L12
PLA2G4C-AS1
LOC101059948
NUCB1-AS1
SNAR-A3
SNAR-A10
FUZ
DHDH
ELSPBP1
IL4I1
LOC105372430
VRK3
LOC101928295
SNAR-B1
RRAS
RASIP1
SNAR-A11
CGB8
KCNJ14
PRR12
CCDC155
FCGRT
SNORD35B
SNAR-G1
SPHK2
LHB
CA11
|
| dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain |
LOC101059948
MIR6798
GYS1
BAX
FTL
LHB
RUVBL2
|
| nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss |
NTF4
MIR6798
LIN7B
BAX
CGB8
FTL
CGB7
PPFIA3
C19orf73
CGB1
NUCB1
LOC101059948
NUCB1-AS1
KCNA7
CGB3
DHDH
GYS1
SNAR-G1
SNAR-G2
CGB5
LHB
CGB2
SNRNP70
RUVBL2
|
| nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion |
NTF4
MIR6798
BAX
CGB8
FTL
CGB7
CGB1
LOC101059948
KCNA7
CGB3
GYS1
SNAR-G1
SNAR-G2
CGB5
LHB
CGB2
SNRNP70
RUVBL2
|
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Additional Information:
For this assay, SNP(s) [rs115986262,rs79391930] 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:
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