Assay Details
Target Gene Details
Entrez Gene ID: | 4704 |
Gene Name: | NADH:ubiquinone oxidoreductase subunit A9 |
Gene Aliases: |
CC6, CI-39k, CI39k, NDUFS2L, SDR22E1 |
Location: |
Chr.12:4649098-4687554 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 2 - Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFA9 | NM_005002.4 | NP_004993.1 | ||
AF050641.1 | AAD42055.1 | |||
AK291067.1 | ||||
AK308588.1 | ||||
BC003351.1 | AAH03351.1 | |||
BC009311.2 | AAH09311.1 | |||
BC015837.1 | AAH15837.1 | |||
BC111546.1 | AAI11547.1 | |||
CB110957.1 | ||||
L04490.1 | AAA36350.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv587 | Chr.12:4636246 - 4670472 on Build GRCh38 | Insertion | AKAP3 NDUFA9 |
nsv483060 | Chr.12:3190835 - 5290834 on Build GRCh38 | Loss | THCAT155 DYRK4 CCND2 CCND2-AS1 KCNA1 LOC100128253 PARP11 AKAP3 NDUFA9 LOC101929549 C12orf4 TIGAR TSPAN9 RAD51AP1 FGF6 LOC105369606 PRMT8 LOC101929584 KCNA5 GALNT8 KCNA6 CRACR2A FGF23 |
nsv557126 | Chr.12:4648643 - 4659453 on Build GRCh38 | Loss | AKAP3 NDUFA9 |
nsv1036308 | Chr.12:4639491 - 4694990 on Build GRCh38 | Loss | AKAP3 NDUFA9 |
nsv557125 | Chr.12:4639244 - 4654971 on Build GRCh38 | Loss | AKAP3 NDUFA9 |
nsv832318 | Chr.12:4546633 - 4766671 on Build GRCh38 | Gain | LOC101929549 DYRK4 RAD51AP1 GALNT8 AKAP3 NDUFA9 |
nsv1040098 | Chr.12:3987637 - 5646161 on Build GRCh38 | Gain | DYRK4 CCND2 CCND2-AS1 KCNA1 AKAP3 NDUFA9 LOC101929549 NTF3 C12orf4 TIGAR RAD51AP1 FGF6 LOC101929584 KCNA5 GALNT8 KCNA6 FGF23 ANO2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |