Assay Details
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: | Within Intron 3 |
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 | EEF1E1 BLOC1S5-TXNDC5 LOC100506207 SLC35B3 EEF1E1-BLOC1S5 SCARNA27 HULC BLOC1S5 |
nsv600924 | Chr.6:7823346 - 8206902 on Build GRCh38 | Gain | EEF1E1 BLOC1S5-TXNDC5 BMP6 EEF1E1-BLOC1S5 PIP5K1P1 TXNDC5 SCARNA27 BLOC1S5 |
esv2731544 | Chr.6:7817430 - 8348230 on Build GRCh38 | Deletion | EEF1E1 BLOC1S5-TXNDC5 BMP6 EEF1E1-BLOC1S5 PIP5K1P1 TXNDC5 SCARNA27 BLOC1S5 |
More Information
Additional Information:
For this assay, SNP(s) [rs150947076] 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 Intronic Non-exonic DGV Variation |