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 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EEF1A2 | NM_001958.3 | 8 | 1880 | NP_001949.1 |
AK307536.1 | ||||
BC000432.2 | 7 | 1619 | AAH00432.1 | |
BC110409.1 | 8 | 1849 | ||
BQ944047.1 | 1 | 172 | ||
L10340.1 | 7 | 1468 | AAA91835.1 | |
X70940.1 | 7 | 1634 | 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 | NKAIN4 KCNQ2 MIR124-3 CHRNA4 MIR4326 MIR3196 HELZ2 ARFGAP1 LOC107985425 YTHDF1 FLJ16779 LOC100130152 LOC102723788 SRMS PTK6 EEF1A2 FNDC11 LOC100130587 BIRC7 PPDPF COL20A1 |
dgv7666n54 | Chr.20:63460989 - 63528151 on Build GRCh38 | Loss | KCNQ2 EEF1A2 PPDPF |
nsv9825 | Chr.20:62775470 - 63601330 on Build GRCh38 | Gain | LINC00029 GID8 KCNQ2 MIR124-3 MIR4326 HELZ2 LOC107985425 SLC17A9 BHLHE23 HAR1B LOC102723788 GMEB2 LINC01056 TCFL5 SRMS LINC00659 OGFR BIRC7 OGFR-AS1 COL20A1 NKAIN4 DPH3P1 CHRNA4 MIR3196 ARFGAP1 MRGBP YTHDF1 FLJ16779 LOC100130152 LOC107985428 PTK6 COL9A3 DIDO1 EEF1A2 HAR1A FNDC11 LOC100130587 PPDPF LOC63930 |
nsv586568 | Chr.20:63486715 - 63502196 on Build GRCh38 | Loss | EEF1A2 |
nsv834033 | Chr.20:63421436 - 63554987 on Build GRCh38 | Gain | KCNQ2 SRMS PTK6 EEF1A2 FNDC11 PPDPF |
nsv834034 | Chr.20:63462825 - 63625901 on Build GRCh38 | Loss | KCNQ2 GMEB2 SRMS PTK6 EEF1A2 FNDC11 HELZ2 PPDPF |
esv2758806 | Chr.20:63470996 - 63745014 on Build GRCh38 | Gain+Loss | ARFRP1 KCNQ2 STMN3 LIME1 ZGPAT HELZ2 SLC2A4RG TNFRSF6B RTEL1 GMEB2 LOC100505771 SRMS PTK6 RTEL1-TNFRSF6B EEF1A2 FNDC11 ZBTB46 PPDPF |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |