Assay Details
Target Gene Details
Entrez Gene ID: | 100529264 |
Gene Name: | RAB4B-EGLN2 readthrough (NMD candidate) |
Gene Aliases: |
RERT-lncRNA |
Location: |
Chr.19:40778219-40808441 on Build GRCh38 |
Assay Gene Location: | Within Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RAB4B-EGLN2 | NR_037791.1 | |||
AK291385.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1118831 | Chr.19:40798995 - 40799495 on Build GRCh38 | Deletion | EGLN2 RAB4B-EGLN2 |
nsv833832 | Chr.19:40754458 - 40828692 on Build GRCh38 | Loss | SNRPA MIA EGLN2 MIA-RAB4B RAB4B-EGLN2 RAB4B CYP2T1P |
esv2758762 | Chr.19:40785722 - 41040163 on Build GRCh38 | Gain+Loss | CYP2B6 CYP2A7P1 CYP2G1P CYP2A6 EGLN2 MIA-RAB4B RAB4B-EGLN2 CYP2B7P RAB4B CYP2T1P CYP2A7 |
More Information
Additional Information:
For this assay, SNP(s) [rs112740530] 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 |