Assay Details
Target Gene Details
Entrez Gene ID: | 1965 |
Gene Name: | eukaryotic translation initiation factor 2 subunit alpha |
Gene Aliases: |
EIF-2, EIF-2A, EIF-2alpha, EIF2, EIF2A |
Location: |
Chr.14:67360317-67386516 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EIF2S1 | NM_004094.4 | 8 | 2139 | NP_004085.1 |
BC002513.2 | AAH02513.1 | |||
U26032.1 | 1 | 632 |
Target Gene Details
Entrez Gene ID: | 10243 |
Gene Name: | gephyrin |
Gene Aliases: |
GEPH, GPH, GPHRYN, HKPX1, MOCODC |
Location: |
Chr.14:66507407-67735831 on Build GRCh38 |
Assay Gene Location: | Within Intron 30 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GPHN | XM_017020925.1 | XP_016876414.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2751285 | Chr.14:66898030 - 67420064 on Build GRCh38 | Gain | LOC105370541 ATP6V1D GPHN PLEK2 FAM71D EIF2S1 MPP5 |
nsv509539 | Chr.14:67383566 - 67405348 on Build GRCh38 | Insertion | GPHN PLEK2 EIF2S1 |
nsv456331 | Chr.14:67266144 - 67637063 on Build GRCh38 | Gain | LOC105370541 ARG2 TMEM229B ATP6V1D GPHN HMGB1P34 PLEK2 PIGH MIR5694 PLEKHH1 EIF2S1 MPP5 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |