Assay Details
Target Gene Details
Entrez Gene ID: | 8878 |
Gene Name: | sequestosome 1 |
Gene Aliases: |
A170, FTDALS3, OSIL, PDB3, ZIP3, p60, p62, p62B |
Location: |
Chr.5:179806388-179838078 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SQSTM1 | NM_001142298.1 | NP_001135770.1 | ||
NM_001142299.1 | NP_001135771.1 | |||
XM_011534683.2 | XP_011532985.1 | |||
AK093109.1 | 1 | 906 | ||
BC001874.1 | AAH01874.1 | |||
BI549805.1 | ||||
DA541885.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv469579 | Chr.5:179757830 - 179933191 on Build GRCh38 | Loss | MAML1 SQSTM1 TBC1D9B MGAT4B RNF130 C5orf45 MIR1229 LOC100996419 LTC4S |
nsv600668 | Chr.5:179800865 - 179815581 on Build GRCh38 | Loss | SQSTM1 MGAT4B |
esv988291 | Chr.5:179806076 - 179813737 on Build GRCh38 | Deletion | SQSTM1 MGAT4B |
esv3570596 | Chr.5:179804973 - 179813403 on Build GRCh38 | Loss | SQSTM1 MGAT4B |
nsv823361 | Chr.5:179786323 - 179824243 on Build GRCh38 | Loss | SQSTM1 MGAT4B MIR1229 LTC4S |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |