Assay Details
Target Gene Details
Entrez Gene ID: | 1175 |
Gene Name: | adaptor related protein complex 2 sigma 1 subunit |
Gene Aliases: |
AP17, CLAPS2, FBH3, FBHOk, HHC3 |
Location: |
Chr.19:46838158-46850995 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| AP2S1 | NM_001301078.1 | 1 | 138 | NP_001288007.1 |
| NM_004069.4 | 1 | 138 | NP_004060.2 | |
| NM_021575.3 | 1 | 138 | NP_067586.1 | |
| AK312003.1 | ||||
| CB108423.1 | 1 | 89 | ||
| DB472500.1 | 1 | 138 | ||
| H46780.1 | 1 | 110 | ||
| X97074.1 | CAA65782.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv833850 | Chr.19:46703285 - 46867053 on Build GRCh38 | Loss |
|
| dgv3608n100 | Chr.19:46757741 - 46865807 on Build GRCh38 | Gain |
|
| esv3893224 | Chr.19:46783912 - 46911729 on Build GRCh38 | Gain |
|
More Information
Set Membership: |
|

Genomic Map