Product Details

Assay Reference Genome
Location

Chr.2:27368658 on build GRCh38
Cytoband
2p23.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
8890
Gene Symbol
EIF2B4
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 5 - Exon 5
Gene Symbol Transcript Accession Exon Location Assay 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
AB209532.1 3 1190 BAD92769.1
AF057699.1 AAQ13438.1
AF112207.1 AAF17195.1
AF218009.1 AAG17251.1
AJ011305.1 CAB57260.1
AJ011306.1 CAB57261.1
AK300734.1
AL050109.1 CAB43277.1
BC001870.1 AAH01870.1
BC091502.1 AAH91502.1
BG717490.1
BI255289.1
JQ991007.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv833614 Chr2:27263559 - 27452213 on Build GRCh38 Gain ZNF513 EIF2B4 GTF3C2 UCN LOC105374363 NRBP1 IFT172 SNX17 SLC30A3 PPM1G DNAJC5G GTF3C2-AS1 TRIM54 MPV17 KRTCAP3 FTH1P3
esv3575209 Chr2:27334578 - 27389381 on Build GRCh38 Gain ZNF513 EIF2B4 GTF3C2 PPM1G GTF3C2-AS1 LOC105374363 SNX17
nsv581244 Chr2:27335385 - 27480628 on Build GRCh38 Loss ZNF513 EIF2B4 GTF3C2 PPM1G GTF3C2-AS1 LOC105374363 NRBP1 KRTCAP3 IFT172 SNX17 FTH1P3

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