Assay Details
Target Gene Details
Entrez Gene ID: | 116987 |
Gene Name: | ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 |
Gene Aliases: |
AGAP-1, CENTG2, GGAP1, cnt-g2 |
Location: |
Chr.2:235494089-236131800 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AGAP1 | NM_001037131.2 | 1 | 206 | NP_001032208.1 |
NM_001244888.1 | 1 | 206 | NP_001231817.1 | |
NM_014914.4 | 1 | 206 | NP_055729.2 | |
AB029022.1 | 1 | 179 | ||
AY033765.1 | 1 | 169 | AAK56506.1 | |
BC060814.1 | 1 | 206 | AAH60814.1 | |
BC167153.1 | 1 | 179 | ||
BC167157.1 | 1 | 191 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv527654 | Chr.2:234661964 - 235549244 on Build GRCh38 | Gain | LINC01173 SH3BP4 AGAP1-IT1 LOC101927896 AGAP1 |
nsv834575 | Chr.2:235384329 - 235543362 on Build GRCh38 | Gain | AGAP1-IT1 AGAP1 |
esv3575341 | Chr.2:235300440 - 235588493 on Build GRCh38 | Gain | AGAP1-IT1 AGAP1 |
nsv1072503 | Chr.2:235493855 - 235494856 on Build GRCh38 | Deletion | AGAP1 |
dgv2177n106 | Chr.2:235493756 - 235494856 on Build GRCh38 | Deletion | AGAP1 |
dgv4191n100 | Chr.2:235085672 - 235523486 on Build GRCh38 | Gain | AGAP1-IT1 AGAP1 |
nsv999839 | Chr.2:234676935 - 235726730 on Build GRCh38 | Gain | LINC01173 SH3BP4 AGAP1-IT1 LOC101927896 AGAP1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |