Assay Details
Target Gene Details
Entrez Gene ID: | 1917 |
Gene Name: | eukaryotic translation elongation factor 1 alpha 2 |
Gene Aliases: |
EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN, STNL |
Location: |
Chr.20:63488012-63499315 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EEF1A2 | NM_001958.3 | 6 | 1306 | NP_001949.1 |
AB209064.1 | 4 | 3546 | BAD92301.1 | |
AB451389.1 | 5 | 977 | ||
AK307536.1 | 6 | 1074 | ||
BC000432.2 | 5 | 1045 | AAH00432.1 | |
BC110409.1 | 6 | 1275 | ||
L10340.1 | 5 | 894 | AAA91835.1 | |
X70940.1 | 5 | 1060 | CAA50280.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv953306 | Chr.20:63151949 - 63571247 on Build GRCh38 | Deletion | FLJ16779 LOC100130152 COL20A1 MIR124-3 EEF1A2 BIRC7 FNDC11 ARFGAP1 CHRNA4 HELZ2 KCNQ2 NKAIN4 LOC102723788 PPDPF LOC100130587 LOC107985425 MIR3196 MIR4326 YTHDF1 SRMS PTK6 |
dgv7666n54 | Chr.20:63460989 - 63528151 on Build GRCh38 | Loss | KCNQ2 EEF1A2 PPDPF |
nsv3448 | Chr.20:63488613 - 63520639 on Build GRCh38 | Insertion | EEF1A2 |
nsv9825 | Chr.20:62775470 - 63601330 on Build GRCh38 | Gain | OGFR BIRC7 FNDC11 GID8 DPH3P1 MRGBP ARFGAP1 CHRNA4 LINC00029 NKAIN4 LINC00659 LOC102723788 LOC100130587 BHLHE23 LOC107985425 OGFR-AS1 SLC17A9 COL9A3 MIR4326 FLJ16779 LOC100130152 COL20A1 LINC01056 MIR124-3 EEF1A2 TCFL5 DIDO1 LOC107985428 HAR1B HAR1A HELZ2 GMEB2 KCNQ2 LOC63930 PPDPF MIR3196 YTHDF1 SRMS PTK6 |
nsv586568 | Chr.20:63486715 - 63502196 on Build GRCh38 | Loss | EEF1A2 |
nsv834033 | Chr.20:63421436 - 63554987 on Build GRCh38 | Gain | KCNQ2 EEF1A2 PPDPF FNDC11 SRMS PTK6 |
nsv834034 | Chr.20:63462825 - 63625901 on Build GRCh38 | Loss | HELZ2 GMEB2 KCNQ2 EEF1A2 PPDPF FNDC11 SRMS PTK6 |
esv2758806 | Chr.20:63470996 - 63745014 on Build GRCh38 | Gain+Loss | RTEL1-TNFRSF6B SLC2A4RG EEF1A2 TNFRSF6B FNDC11 RTEL1 STMN3 LIME1 HELZ2 GMEB2 ZBTB46 KCNQ2 LOC100505771 ZGPAT PPDPF ARFRP1 SRMS PTK6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |