Assay Details
Target Gene Details
Entrez Gene ID: | 11037 |
Gene Name: | stonin 1 |
Gene Aliases: |
SALF, SBLF, STN1, STNB1 |
Location: |
Chr.2:48530169-48598515 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
STON1 | NM_001198595.1 | NP_001185524.1 | ||
NM_006873.3 | NP_006864.2 | |||
AK314464.1 | ||||
CR936807.1 | ||||
DB288942.1 |
Target Gene Details
Entrez Gene ID: | 286749 |
Gene Name: | STON1-GTF2A1L readthrough |
Gene Aliases: |
SALF |
Location: |
Chr.2:48529925-48776517 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
STON1-GTF2A1L | NM_001198593.1 | NP_001185522.1 | ||
AK309740.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1002793 | Chr.2:48544081 - 49239411 on Build GRCh38 | Gain | STON1-GTF2A1L LHCGR MIR548BA STON1 GTF2A1L FSHR |
nsv833981 | Chr.2:48478305 - 48651040 on Build GRCh38 | Loss | PPP1R21 STON1-GTF2A1L STON1 GTF2A1L |
esv2631205 | Chr.2:48554103 - 48558672 on Build GRCh38 | Deletion | STON1-GTF2A1L STON1 |
nsv1000419 | Chr.2:48539818 - 48568188 on Build GRCh38 | Loss | STON1-GTF2A1L STON1 |
nsv581776 | Chr.2:48536243 - 48685880 on Build GRCh38 | Loss | STON1-GTF2A1L STON1 GTF2A1L |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |