Assay Details
Target Gene Details
Entrez Gene ID: | 6493 |
Gene Name: | single-minded family bHLH transcription factor 2 |
Gene Aliases: |
HMC13F06, HMC29C01, SIM, bHLHe15 |
Location: |
Chr.21:36699117-36750219 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SIM2 | NM_005069.4 | NP_005060.1 | ||
NM_009586.3 | NP_033664.2 | |||
XM_017028442.1 | XP_016883931.1 | |||
BC110444.2 | AAI10445.1 | |||
U80456.1 | AAB62396.1 | |||
U80457.1 | AAB62397.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv953361 | Chr.21:36689801 - 36710300 on Build GRCh38 | Deletion | SIM2 |
nsv828876 | Chr.21:36685480 - 36735889 on Build GRCh38 | Loss | SIM2 |
More Information
Additional Information:
For this assay, SNP(s) [rs77473618] 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 |