Assay Details
Target Gene Details
Entrez Gene ID: | 91942 |
Gene Name: | NADH:ubiquinone oxidoreductase complex assembly factor 2 |
Gene Aliases: |
B17.2L, MMTN, NDUFA12L, mimitin |
Location: |
Chr.5:60945129-61153037 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFAF2 | NM_174889.4 | NP_777549.1 | ||
AB183433.1 | BAD91205.1 | |||
AF087990.1 | ||||
AK026051.1 | ||||
AK291296.1 | ||||
BC022869.1 | ||||
BC033965.1 | AAH33965.1 | |||
KU178834.1 | ||||
KU178835.1 | ||||
KU178836.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv518695 | Chr.5:60971048 - 61033797 on Build GRCh38 | Loss | NDUFAF2 |
esv3605201 | Chr.5:60946289 - 60983862 on Build GRCh38 | Loss | NDUFAF2 |
nsv1161251 | Chr.5:60943616 - 60988813 on Build GRCh38 | Deletion | ERCC8 NDUFAF2 |
dgv9810n54 | Chr.5:60820786 - 61017188 on Build GRCh38 | Loss | ERCC8 NDUFAF2 ELOVL7 |
nsv520871 | Chr.5:60845418 - 61024330 on Build GRCh38 | Loss | ERCC8 NDUFAF2 |
nsv598313 | Chr.5:60951988 - 61079085 on Build GRCh38 | Loss | NDUFAF2 |
nsv598308 | Chr.5:60833534 - 61033797 on Build GRCh38 | Gain | ERCC8 NDUFAF2 ELOVL7 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |