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 | LOC102723788 BIRC7 FNDC11 ARFGAP1 SRMS CHRNA4 MIR124-3 KCNQ2 COL20A1 FLJ16779 PPDPF EEF1A2 MIR3196 MIR4326 LOC100130587 LOC100130152 YTHDF1 LOC107985425 NKAIN4 HELZ2 PTK6 |
dgv7666n54 | Chr.20:63460989 - 63528151 on Build GRCh38 | Loss | PPDPF EEF1A2 KCNQ2 |
nsv3448 | Chr.20:63488613 - 63520639 on Build GRCh38 | Insertion | EEF1A2 |
nsv9825 | Chr.20:62775470 - 63601330 on Build GRCh38 | Gain | OGFR SRMS GMEB2 CHRNA4 MIR124-3 OGFR-AS1 SLC17A9 COL9A3 PPDPF EEF1A2 MIR3196 MIR4326 DPH3P1 LOC100130587 YTHDF1 LINC00659 NKAIN4 HELZ2 LINC01056 TCFL5 DIDO1 LOC107985428 LOC102723788 LINC00029 HAR1A BIRC7 FNDC11 ARFGAP1 HAR1B KCNQ2 BHLHE23 GID8 MRGBP COL20A1 LOC63930 FLJ16779 LOC100130152 LOC107985425 PTK6 |
nsv586568 | Chr.20:63486715 - 63502196 on Build GRCh38 | Loss | EEF1A2 |
nsv834033 | Chr.20:63421436 - 63554987 on Build GRCh38 | Gain | FNDC11 PPDPF SRMS EEF1A2 KCNQ2 PTK6 |
nsv834034 | Chr.20:63462825 - 63625901 on Build GRCh38 | Loss | FNDC11 PPDPF SRMS GMEB2 EEF1A2 KCNQ2 HELZ2 PTK6 |
esv2758806 | Chr.20:63470996 - 63745014 on Build GRCh38 | Gain+Loss | ZGPAT FNDC11 SRMS GMEB2 LOC100505771 KCNQ2 RTEL1 SLC2A4RG STMN3 PPDPF EEF1A2 RTEL1-TNFRSF6B TNFRSF6B ZBTB46 ARFRP1 HELZ2 LIME1 PTK6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |