Assay Details
Target Gene Details
Entrez Gene ID: | 1967 |
Gene Name: | eukaryotic translation initiation factor 2B subunit alpha |
Gene Aliases: |
EIF2B, EIF2BA |
Location: |
Chr.12:123621023-123633776 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EIF2B1 | NM_001414.3 | NP_001405.1 | ||
AK294815.1 | ||||
AL541292.3 | ||||
BC103763.1 | AAI03764.1 | |||
DA221985.1 | ||||
DA879094.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2759918 | Chr.12:123625575 - 123711309 on Build GRCh38 | Gain | GTF2H3 EIF2B1 TCTN2 |
dgv1566n100 | Chr.12:123610211 - 123711309 on Build GRCh38 | Gain | GTF2H3 DDX55 EIF2B1 TCTN2 |
nsv442292 | Chr.12:123630500 - 123711307 on Build GRCh38 | Gain | GTF2H3 EIF2B1 TCTN2 |
dgv309e214 | Chr.12:123628443 - 123712471 on Build GRCh38 | Gain | GTF2H3 EIF2B1 TCTN2 ATP6V0A2 |
nsv1042181 | Chr.12:123552853 - 123668403 on Build GRCh38 | Gain | GTF2H3 TMED2 LOC101927415 DDX55 EIF2B1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |