Assay Details
Target Gene Details
Entrez Gene ID: | 4731 |
Gene Name: | NADH:ubiquinone oxidoreductase subunit V3 |
Gene Aliases: |
CI-10k, CI-9KD |
Location: |
Chr.21:42893268-42911396 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFV3 | NM_001001503.1 | NP_001001503.1 | ||
NM_021075.3 | 3 | 642 | NP_066553.3 | |
XM_011529586.2 | 3 | 639 | XP_011527888.1 | |
XM_017028359.1 | XP_016883848.1 | |||
AK056041.1 | 5 | 1099 | BAB71080.1 | |
AK289586.1 | ||||
AK308228.1 | 3 | 599 | ||
AY173949.1 | AAO49719.1 | |||
BC021217.2 | 3 | 629 | AAH21217.2 | |
BC033766.1 | AAH33766.1 | |||
BC054016.1 | AAH54016.1 | |||
BF311986.1 | ||||
BI829092.1 | 3 | 645 | ||
CR542174.1 | CAG46971.1 | |||
CR542190.1 | CAG46987.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3568210 | Chr.21:42868799 - 42962716 on Build GRCh38 | Loss | ERVH48-1 MIR5692B NDUFV3 WDR4 |
nsv587657 | Chr.21:42752699 - 43087910 on Build GRCh38 | Gain | ERVH48-1 MIR5692B PKNOX1 NDUFV3 PDE9A CBS LOC101928311 WDR4 |
esv3584478 | Chr.21:42827914 - 42993457 on Build GRCh38 | Gain | ERVH48-1 MIR5692B PKNOX1 NDUFV3 WDR4 |
esv2666871 | Chr.21:42615442 - 43467915 on Build GRCh38 | Deletion | CRYAA LINC00322 SIK1 HSF2BP PKNOX1 LOC101928284 LINC00319 NDUFV3 PDE9A CBS LOC101928311 LINC00313 LOC101928255 ERVH48-1 U2AF1 FRGCA MIR5692B TCONS_00029157 LOC400870 WDR4 |
nsv834105 | Chr.21:42873719 - 43030219 on Build GRCh38 | Loss | ERVH48-1 MIR5692B PKNOX1 NDUFV3 WDR4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |