Product Details

SNP ID
rs139230340
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:170060961 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTCTTTTATAAGTTGTGCTAATAC[C/T]TGGAAGGCCTAAAACAGAAAAAAAA
Phenotype
MIM: 611754
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AADAT PubMed Links

Gene Details

Gene
AADAT
Gene Name
aminoadipate aminotransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286682.1 1587 Silent Mutation CAA,CAG Q419Q NP_001273611.1
NM_001286683.1 1587 Silent Mutation CAA,CAG Q415Q NP_001273612.1
NM_016228.3 1587 Silent Mutation CAA,CAG Q415Q NP_057312.1
NM_182662.1 1587 Silent Mutation CAA,CAG Q415Q NP_872603.1
XM_006714231.2 1587 Silent Mutation CAA,CAG Q454Q XP_006714294.1
XM_011532020.2 1587 Silent Mutation CAA,CAG Q300Q XP_011530322.1

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