Assay Details
Target Gene Details
Entrez Gene ID: | 8890 |
Gene Name: | eukaryotic translation initiation factor 2B subunit delta |
Gene Aliases: |
EIF-2B, EIF2B, EIF2Bdelta |
Location: |
Chr.2:27364352-27370457 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 12 - Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EIF2B4 | NM_001034116.1 | NP_001029288.1 | ||
NM_001318965.1 | NP_001305894.1 | |||
NM_001318966.1 | NP_001305895.1 | |||
NM_001318967.1 | NP_001305896.1 | |||
NM_001318968.1 | NP_001305897.1 | |||
NM_001318969.1 | NP_001305898.1 | |||
NM_015636.3 | NP_056451.3 | |||
NM_172195.3 | NP_751945.2 | |||
XM_006712132.1 | XP_006712195.1 | |||
XM_011533147.2 | XP_011531449.1 | |||
AF057699.1 | AAQ13438.1 | |||
AF086520.1 | ||||
AF112207.1 | AAF17195.1 | |||
AF218009.1 | AAG17251.1 | |||
AJ011305.1 | CAB57260.1 | |||
AJ011306.1 | CAB57261.1 | |||
AL050109.1 | CAB43277.1 | |||
BC001870.1 | AAH01870.1 | |||
BC091502.1 | AAH91502.1 | |||
JQ991007.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833614 | Chr.2:27263559 - 27452213 on Build GRCh38 | Gain | LOC105374363 EIF2B4 ZNF513 UCN GTF3C2-AS1 SNX17 FTH1P3 DNAJC5G SLC30A3 MPV17 IFT172 TRIM54 PPM1G KRTCAP3 NRBP1 GTF3C2 |
esv3575209 | Chr.2:27334578 - 27389381 on Build GRCh38 | Gain | GTF3C2-AS1 SNX17 LOC105374363 EIF2B4 ZNF513 PPM1G GTF3C2 |
nsv581244 | Chr.2:27335385 - 27480628 on Build GRCh38 | Loss | GTF3C2-AS1 SNX17 FTH1P3 LOC105374363 EIF2B4 ZNF513 IFT172 PPM1G KRTCAP3 NRBP1 GTF3C2 |
More Information
Additional Information:
For this assay, SNP(s) [rs78914478] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Non-exonic DGV Variation |