Assay Details
Target Gene Details
Entrez Gene ID: | 472 |
Gene Name: | ATM serine/threonine kinase |
Gene Aliases: |
AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1 |
Location: |
Chr.11:108222484-108369102 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATM | NM_000051.3 | 4 | 641 | NP_000042.3 |
XM_005271561.4 | 5 | 702 | XP_005271618.2 | |
XM_005271562.4 | 4 | 775 | XP_005271619.2 | |
XM_006718843.3 | 4 | 408 | XP_006718906.1 | |
XM_011542840.2 | 5 | 496 | XP_011541142.1 | |
XM_011542842.2 | 4 | 615 | XP_011541144.1 | |
XM_011542843.2 | 4 | 989 | XP_011541145.1 | |
XM_011542844.2 | 4 | 613 | XP_011541146.1 | |
XM_017017789.1 | 5 | 1199 | XP_016873278.1 | |
XM_017017790.1 | 4 | 596 | XP_016873279.1 | |
XM_017017791.1 | 4 | 989 | XP_016873280.1 | |
XM_017017792.1 | 4 | 989 | XP_016873281.1 | |
AB209133.1 | 3 | 4779 | BAD92370.1 | |
BC061584.1 | 4 | 444 | AAH61584.1 | |
U33841.1 | 5 | 445 | AAC50289.1 | |
X91196.1 | 4 | 989 | CAA62603.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv556430 | Chr.11:108226606 - 108304735 on Build GRCh38 | Loss | ATM |
dgv2181n54 | Chr.11:108227415 - 108244860 on Build GRCh38 | Loss | ATM |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |