Assay Details
Target Gene Details
Entrez Gene ID: | 9521 |
Gene Name: | eukaryotic translation elongation factor 1 epsilon 1 |
Gene Aliases: |
AIMP3, P18 |
Location: |
Chr.6:8073360-8102595 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EEF1E1 | NM_001135650.1 | NP_001129122.1 | ||
NM_004280.4 | NP_004271.1 | |||
AB011079.1 | BAA24926.1 | |||
AF054186.1 | AAC39916.1 | |||
AI394376.1 | ||||
AV714140.2 | ||||
BC005291.1 | AAH05291.1 | |||
BP235196.1 | ||||
BT007306.1 | AAP35970.1 | |||
CK002875.1 |
Target Gene Details
Entrez Gene ID: | 100526837 |
Gene Name: | EEF1E1-BLOC1S5 readthrough (NMD candidate) |
Gene Aliases: |
EEF1E1-MUTED |
Location: |
Chr.6:8013567-8102595 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EEF1E1-BLOC1S5 | NR_037618.1 | |||
BI552521.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv600927 | Chr.6:8057455 - 9333981 on Build GRCh38 | Gain | BLOC1S5 SLC35B3 BLOC1S5-TXNDC5 HULC SCARNA27 EEF1E1 EEF1E1-BLOC1S5 LOC100506207 |
nsv600924 | Chr.6:7823346 - 8206902 on Build GRCh38 | Gain | PIP5K1P1 BLOC1S5 BLOC1S5-TXNDC5 BMP6 SCARNA27 EEF1E1 EEF1E1-BLOC1S5 TXNDC5 |
esv2731544 | Chr.6:7817430 - 8348230 on Build GRCh38 | Deletion | PIP5K1P1 BLOC1S5 BLOC1S5-TXNDC5 BMP6 SCARNA27 EEF1E1 EEF1E1-BLOC1S5 TXNDC5 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |