Product Details
- SNP ID
-
rs587781722
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:108310305 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCAGATAAGAAAAGTATGGATGAT[C/T]AAGAGAAAAGGTAATGGAATTTAGA
- Phenotype
-
MIM: 607585
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ATM
PubMed Links
Gene Details
- Gene
- ATM
- Gene Name
- ATM serine/threonine kinase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000051.3 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1970* |
NP_000042.3 |
XM_005271561.4 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1970* |
XP_005271618.2 |
XM_005271562.4 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1970* |
XP_005271619.2 |
XM_006718843.3 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1970* |
XP_006718906.1 |
XM_006718845.1 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q622* |
XP_006718908.1 |
XM_011542840.2 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1970* |
XP_011541142.1 |
XM_011542842.2 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1915* |
XP_011541144.1 |
XM_011542843.2 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1970* |
XP_011541145.1 |
XM_011542844.2 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1622* |
XP_011541146.1 |
XM_011542845.1 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1534* |
XP_011541147.1 |
XM_017017789.1 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1970* |
XP_016873278.1 |
XM_017017790.1 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1970* |
XP_016873279.1 |
XM_017017791.1 |
6060 |
Nonsense Mutation |
CAA,TAA |
Q1970* |
XP_016873280.1 |
XM_017017792.1 |
6060 |
Intron |
|
|
XP_016873281.1 |
- Gene
- C11orf65
- Gene Name
- chromosome 11 open reading frame 65
View Full Product Details