Product Details

SNP ID
rs144554989
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:75603150 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCTTCTGGAATGATCTGAAGAG[C/T]TCCACTTTGCTGATTTGGGATCTGT
Phenotype
MIM: 604230
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ADAT1 PubMed Links

Gene Details

Gene
ADAT1
Gene Name
adenosine deaminase, tRNA specific 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324444.1 2065 Silent Mutation GAA,GAG E288E NP_001311373.1
NM_001324445.1 2065 Silent Mutation GAA,GAG E437E NP_001311374.1
NM_001324446.1 2065 Silent Mutation GAA,GAG E288E NP_001311375.1
NM_001324448.1 2065 Silent Mutation GAA,GAG E355E NP_001311377.1
NM_001324449.1 2065 Silent Mutation GAA,GAG E355E NP_001311378.1
NM_001324450.1 2065 Silent Mutation GAA,GAG E206E NP_001311379.1
NM_001324451.1 2065 Silent Mutation GAA,GAG E206E NP_001311380.1
NM_001324452.1 2065 Silent Mutation GAA,GAG E350E NP_001311381.1
NM_001324453.1 2065 Silent Mutation GAA,GAG E268E NP_001311382.1
NM_012091.4 2065 Silent Mutation GAA,GAG E437E NP_036223.2

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