Assay Details
Target Gene Details
Entrez Gene ID: | 11282 |
Gene Name: | mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B |
Gene Aliases: |
GNT-IV, GNT-IVB |
Location: |
Chr.5:179797597-179806952 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MGAT4B | NM_014275.4 | 1 | 133 | NP_055090.1 |
XM_017008998.1 | XP_016864487.1 | |||
AL537522.3 | 1 | 133 | ||
BC051835.1 | AAH51835.1 | |||
CN369872.1 | 1 | 122 |
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 Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SQSTM1 | NM_001142298.1 | NP_001135770.1 | ||
XM_011534683.2 | 1 | 211 | XP_011532985.1 | |
BC001874.1 | AAH01874.1 | |||
BI549805.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1133621 | Chr.5:179805800 - 179807200 on Build GRCh38 | Deletion | SQSTM1 MGAT4B |
nsv469579 | Chr.5:179757830 - 179933191 on Build GRCh38 | Loss | MIR1229 SQSTM1 RNF130 C5orf45 MAML1 LOC100996419 LTC4S MGAT4B TBC1D9B |
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 | MIR1229 SQSTM1 LTC4S MGAT4B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |