Assay Details
Target Gene Details
Entrez Gene ID: | 54626 |
Gene Name: | hes family bHLH transcription factor 2 |
Gene Aliases: |
bHLHb40 |
Location: |
Chr.1:6415232-6419919 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HES2 | NM_019089.4 | 4 | 3007 | NP_061962.2 |
AK023754.1 | 1 | 2192 | ||
AK091122.1 | 4 | 3007 | ||
BC012091.1 | AAH12091.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1009548 | Chr.1:6342976 - 6517352 on Build GRCh38 | Loss | ACOT7 ESPN HES2 TNFRSF25 PLEKHG5 MIR4252 |
dgv80n54 | Chr.1:6396412 - 6512115 on Build GRCh38 | Loss | ESPN HES2 TNFRSF25 PLEKHG5 MIR4252 |
nsv954048 | Chr.1:6414241 - 6500740 on Build GRCh38 | Deletion | ESPN HES2 TNFRSF25 PLEKHG5 MIR4252 |
nsv545240 | Chr.1:6351154 - 6512115 on Build GRCh38 | Loss | ACOT7 ESPN HES2 TNFRSF25 PLEKHG5 MIR4252 |
nsv508836 | Chr.1:6406896 - 6501029 on Build GRCh38 | Insertion | ESPN HES2 TNFRSF25 PLEKHG5 MIR4252 |
More Information
Additional Information:
For this assay, SNP(s) [rs78326109] 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 Exonic DGV Variation |