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 Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFV3 | NM_001001503.1 | NP_001001503.1 | ||
NM_021075.3 | NP_066553.3 | |||
XM_011529586.2 | XP_011527888.1 | |||
XM_017028359.1 | XP_016883848.1 | |||
AK056041.1 | BAB71080.1 | |||
AK289586.1 | ||||
AK308228.1 | ||||
BC021217.2 | AAH21217.2 | |||
BC033766.1 | AAH33766.1 | |||
BC054016.1 | AAH54016.1 | |||
BF311986.1 | ||||
BI829092.1 | ||||
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 | WDR4 MIR5692B ERVH48-1 NDUFV3 |
nsv587657 | Chr.21:42752699 - 43087910 on Build GRCh38 | Gain | WDR4 CBS LOC101928311 MIR5692B ERVH48-1 NDUFV3 PKNOX1 PDE9A |
esv2652948 | Chr.21:42894167 - 42894965 on Build GRCh38 | Insertion | NDUFV3 |
esv3584478 | Chr.21:42827914 - 42993457 on Build GRCh38 | Gain | WDR4 MIR5692B ERVH48-1 NDUFV3 PKNOX1 |
esv2666871 | Chr.21:42615442 - 43467915 on Build GRCh38 | Deletion | HSF2BP LINC00322 CBS MIR5692B ERVH48-1 CRYAA LINC00313 U2AF1 TCONS_00029157 LOC400870 WDR4 LOC101928311 LOC101928284 LOC101928255 SIK1 FRGCA NDUFV3 PKNOX1 PDE9A LINC00319 |
nsv834105 | Chr.21:42873719 - 43030219 on Build GRCh38 | Loss | WDR4 MIR5692B ERVH48-1 NDUFV3 PKNOX1 |
More Information
Additional Information:
For this assay, SNP(s) [rs67630972] 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 |