Product Details

SNP ID
rs56350236
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:170069224 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATCCATGGAAAGAAATGTTGGTA[C/T]CCTGAACTTAAAATGAAAAATAAAA
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 1069 Missense Mutation ATA,GTA I247V NP_001273611.1
NM_001286683.1 1069 Missense Mutation ATA,GTA I243V NP_001273612.1
NM_016228.3 1069 Missense Mutation ATA,GTA I243V NP_057312.1
NM_182662.1 1069 Missense Mutation ATA,GTA I243V NP_872603.1
XM_006714231.2 1069 Missense Mutation ATA,GTA I282V XP_006714294.1
XM_011532020.2 1069 Missense Mutation ATA,GTA I128V XP_011530322.1

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