Product Details

SNP ID
rs151231482
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:170068641 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGAAACTTGTATGTGTAAAATAA[C/T]TCTCTCTATTAAGGGTTTTGGACCA
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 1192 Missense Mutation ATT,GTT I288V NP_001273611.1
NM_001286683.1 1192 Missense Mutation ATT,GTT I284V NP_001273612.1
NM_016228.3 1192 Missense Mutation ATT,GTT I284V NP_057312.1
NM_182662.1 1192 Missense Mutation ATT,GTT I284V NP_872603.1
XM_006714231.2 1192 Missense Mutation ATT,GTT I323V XP_006714294.1
XM_011532020.2 1192 Missense Mutation ATT,GTT I169V XP_011530322.1

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