Assay Details
Target Gene Details
Entrez Gene ID: | 79595 |
Gene Name: | Sin3A associated protein 130 |
Gene Aliases: |
- |
Location: |
Chr.2:127941217-128028093 on Build GRCh38 |
Assay Gene Location: | Within Exon 22 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SAP130 | NM_001145928.1 | 21 | 4105 | NP_001139400.1 |
NM_024545.3 | 20 | 4000 | NP_078821.2 | |
XM_005263767.3 | 21 | 4076 | XP_005263824.1 | |
XM_005263768.3 | 21 | 4055 | XP_005263825.1 | |
XM_005263769.3 | 21 | 3976 | XP_005263826.1 | |
XM_005263770.3 | 21 | 4052 | XP_005263827.1 | |
XM_006712748.3 | 21 | 4262 | XP_006712811.1 | |
XM_006712749.3 | 20 | 4157 | XP_006712812.1 | |
XM_017004903.1 | 21 | 4052 | XP_016860392.1 | |
XM_017004904.1 | 20 | 3950 | XP_016860393.1 | |
XM_017004905.1 | 20 | 3947 | XP_016860394.1 | |
AK022823.1 | 11 | 2622 | BAB14261.1 | |
AK092234.1 | 14 | 3058 | ||
AL136833.1 | 20 | 3998 | CAB66767.1 | |
BC017453.1 | 13 | 2805 | AAH17453.2 | |
DB509348.1 | 1 | 317 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv508865 | Chr.2:127888968 - 127971794 on Build GRCh38 | Insertion | SAP130 |
nsv834367 | Chr.2:127873217 - 128032498 on Build GRCh38 | Loss | AMMECR1L SAP130 LOC107985803 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |