Assay Details
Target Gene Details
Entrez Gene ID: | 4696 |
Gene Name: | NADH:ubiquinone oxidoreductase subunit A3 |
Gene Aliases: |
B9, CI-B9 |
Location: |
Chr.19:54102338-54106974 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFA3 | NM_004542.3 | NP_004533.1 | ||
XM_017026833.1 | XP_016882322.1 | |||
AF044955.1 | AAD05420.1 | |||
AF070653.1 | AAD20959.1 | |||
AK289489.1 | ||||
BC022369.1 | AAH22369.1 | |||
BC061644.1 | AAH61644.1 | |||
CR542143.1 | CAG46940.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1056177 | Chr.19:54073048 - 54112306 on Build GRCh38 | Gain | TFPT TARM1 NDUFA3 OSCAR |
nsv510773 | Chr.19:54017180 - 54132236 on Build GRCh38 | Deletion | TFPT TARM1 NDUFA3 VSTM1 PRPF31 OSCAR |
nsv515623 | Chr.19:54102901 - 54179150 on Build GRCh38 | Loss | TMC4 TFPT NDUFA3 LENG1 CNOT3 PRPF31 MBOAT7 |
nsv953613 | Chr.19:54097214 - 54198733 on Build GRCh38 | Deletion | TMC4 TFPT NDUFA3 LENG1 CNOT3 TSEN34 PRPF31 MBOAT7 OSCAR |
esv2718812 | Chr.19:53184636 - 54322450 on Build GRCh38 | Deletion | MIR518F MIR371A LILRA5 LOC105372457 MIR526B VN1R4 TFPT TARM1 MIR524 MIR518C MIR527 MIR4752 MIR522 MIR518B MIR517A ZNF525 MIR520C ZNF761 TSEN34 VN1R2 MIR523 MBOAT7 TMC4 ZNF845 MIR521-1 MIR515-2 MIR520F LILRB5 BIRC8 MIR519A2 MIR517C MIR516B1 MIR520G MYADM CNOT3 MIR516A2 MIR520B MIR518A1 MIR526A2 LILRA6 LILRB3 MIR498 MIR935 NLRP12 MIR521-2 MIR516A1 MIR519B LENG1 RPS9 VSTM1 MIR1283-2 MIR371B MIR512-1 PRKCG MIR512-2 OSCAR MIR526A1 FAM90A27P MIR520A MIR520H LOC284379 MIR517B ZNF818P PRPF31 MIR519A1 ZNF665 MIR518D MIR516B2 MIR525 MIR519C MIR1283-1 MIR515-1 DPRX MIR1323 TPM3P9 ZNF813 MIR372 MIR519D CACNG7 ZNF331 MIR520E ZNF765 CACNG6 CACNG8 NDUFA3 MIR519E LILRB2 MIR518A2 MIR520D ZNF677 MIR518E MIR373 |
nsv470157 | Chr.19:54063999 - 54127773 on Build GRCh38 | Loss | TFPT TARM1 NDUFA3 PRPF31 OSCAR |
esv3893246 | Chr.19:54081109 - 54111207 on Build GRCh38 | Gain | TFPT TARM1 NDUFA3 OSCAR |
nsv833877 | Chr.19:53951529 - 54117323 on Build GRCh38 | Loss | MIR935 TFPT TARM1 NDUFA3 VSTM1 PRPF31 OSCAR CACNG6 CACNG8 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |