Assay Details
Target Gene Details
Entrez Gene ID: | 4700 |
Gene Name: | NADH:ubiquinone oxidoreductase subunit A6 |
Gene Aliases: |
B14, CI-B14, LYRM6, NADHB14 |
Location: |
Chr.22:42085526-42090884 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFA6 | NM_002490.3 | 2 | 359 | NP_002481.2 |
AF047182.1 | 2 | 223 | AAC04267.1 | |
AK291874.1 | 2 | 237 | ||
AK316562.1 | 2 | 233 | ||
BC002772.1 | 2 | 220 | AAH02772.1 | |
CR456529.1 | 2 | 359 | CAG30415.1 | |
CR456714.1 | 2 | 219 | CAG32995.1 | |
CR541997.1 | 2 | 219 | CAG46794.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv508737 | Chr.22:42052007 - 42134336 on Build GRCh38 | Insertion | NDUFA6 NAGA CYP2D6 FAM109B SMDT1 LOC102723722 WBP2NL SNORD13P1 NDUFA6-AS1 |
nsv834210 | Chr.22:42057329 - 42209100 on Build GRCh38 | Loss | CYP2D7 NDUFA6 NAGA CYP2D6 FAM109B SMDT1 TCF20 LOC102723722 WBP2NL SNORD13P1 NDUFA6-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |