Product Details

SNP ID
rs145190544
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:170064810 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAAACATTCCAGCAGCAGGAACA[C/T]GCCATTCTGCCAAACCTACAAACAA
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 1385 Missense Mutation CAT,CGT H352R NP_001273611.1
NM_001286683.1 1385 Missense Mutation CAT,CGT H348R NP_001273612.1
NM_016228.3 1385 Missense Mutation CAT,CGT H348R NP_057312.1
NM_182662.1 1385 Missense Mutation CAT,CGT H348R NP_872603.1
XM_006714231.2 1385 Missense Mutation CAT,CGT H387R XP_006714294.1
XM_011532020.2 1385 Missense Mutation CAT,CGT H233R XP_011530322.1

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