Assay Details
Target Gene Details
Entrez Gene ID: | 7015 |
Gene Name: | telomerase reverse transcriptase |
Gene Aliases: |
CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1, TP2, TRT, hEST2, hTRT |
Location: |
Chr.5:1253167-1295626 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TERT | NM_001193376.1 | 15 | 3656 | NP_001180305.1 |
NM_198253.2 | 16 | 3845 | NP_937983.2 | |
XM_017009796.1 | 16 | 4417 | XP_016865285.1 | |
AF015950.1 | 16 | 3842 | AAC51672.1 | |
AF018167.1 | 16 | 3843 | AAC51724.1 | |
AX810036.1 | 16 | 3842 | CAE75638.1 | |
AX810378.1 | 16 | 3842 | CAE75644.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1024507 | Chr.5:1232783 - 1269250 on Build GRCh38 | Gain | SLC6A18 TERT |
esv3575810 | Chr.5:1055511 - 1282578 on Build GRCh38 | Gain | SLC6A18 SLC12A7 MIR4635 SLC6A19 TERT CTD-3080P12.3 |
nsv509044 | Chr.5:1147636 - 1265572 on Build GRCh38 | Insertion | SLC6A18 SLC12A7 SLC6A19 TERT CTD-3080P12.3 |
nsv950627 | Chr.5:1008886 - 1300685 on Build GRCh38 | Deletion | NKD2 SLC6A18 SLC12A7 MIR4635 SLC6A19 TERT CTD-3080P12.3 |
nsv596629 | Chr.5:457146 - 1468172 on Build GRCh38 | Gain | LOC100996325 TPPP LOC100506688 ZDHHC11 TERT EXOC3 SLC12A7 CTD-3080P12.3 MIR4457 CLPTM1L CEP72 PP7080 LOC100288152 SLC6A3 BRD9 TRIP13 NKD2 LOC101929895 SLC6A18 SLC9A3 MIR4635 MIR4456 LPCAT1 SLC6A19 LINC01511 ZDHHC11B |
esv3603797 | Chr.5:1086744 - 1259707 on Build GRCh38 | Gain | SLC6A18 SLC12A7 SLC6A19 TERT CTD-3080P12.3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |