Product Details

SNP ID
rs149454204
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49872948 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCACTAATGCCCAGCTGCTCCCC[A/G]GAGGTCTCTGTCTCTGTGGGCTCAT
Phenotype
MIM: 610221 MIM: 605610 MIM: 616659
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
AKT1S1 PubMed Links

Gene Details

Gene
AKT1S1
Gene Name
AKT1 substrate 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098632.2 731 Silent Mutation TCC,TCT S116S NP_001092102.1
NM_001098633.3 731 Silent Mutation TCC,TCT S116S NP_001092103.1
NM_001278159.1 731 Silent Mutation TCC,TCT S116S NP_001265088.1
NM_001278160.1 731 Silent Mutation TCC,TCT S116S NP_001265089.1
NM_032375.5 731 Silent Mutation TCC,TCT S136S NP_115751.3
Gene
PNKP
Gene Name
polynucleotide kinase 3'-phosphatase
There are no transcripts associated with this gene.

Gene
TBC1D17
Gene Name
TBC1 domain family member 17
There are no transcripts associated with this gene.

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