Assay Details
Target Gene Details
Entrez Gene ID: | 10102 |
Gene Name: | Ts translation elongation factor, mitochondrial |
Gene Aliases: |
EFTS, EFTSMT |
Location: |
Chr.12:57782745-57802856 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TSFM | NM_001172695.1 | 2 | 229 | NP_001166166.1 |
NM_001172696.1 | 2 | 229 | NP_001166167.1 | |
NM_001172697.1 | 2 | 229 | NP_001166168.1 | |
NM_005726.5 | 2 | 229 | NP_005717.3 | |
AF110399.1 | 2 | 175 | AAD20224.1 | |
AK295323.1 | 2 | 193 | ||
AK304621.1 | 2 | 213 | ||
AK308981.1 | 2 | 192 | ||
AK313453.1 | 2 | 213 | ||
BC022862.1 | 2 | 202 | AAH22862.1 | |
BC093068.1 | 2 | 184 | AAH93068.1 | |
DB448773.1 | 2 | 229 | ||
L37936.1 | 1 | 80 | AAC37577.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv559046 | Chr.12:57768302 - 58084815 on Build GRCh38 | Gain | MIR26A2 CTDSP2 TSFM METTL1 LOC105369783 LOC100506844 AVIL LOC283387 ATP23 METTL21B |
nsv470296 | Chr.12:57718406 - 57783509 on Build GRCh38 | Loss | TSFM TSPAN31 METTL1 CYP27B1 AGAP2-AS1 CDK4 MIR6759 AGAP2 MARCH9 OS9 METTL21B |
nsv470297 | Chr.12:57739473 - 57808636 on Build GRCh38 | Gain | TSFM TSPAN31 METTL1 CYP27B1 CDK4 AVIL MIR6759 AGAP2 MARCH9 METTL21B |
nsv510601 | Chr.12:57736515 - 57798142 on Build GRCh38 | Deletion | TSFM TSPAN31 METTL1 CYP27B1 CDK4 AVIL MIR6759 AGAP2 MARCH9 METTL21B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |