Product Details

SNP ID
rs142229838
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:170067378 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCCCCATTCGTGTAGAAGCTGT[A/G]ATATCATGAGCTAAAAGAGATAAAA
Phenotype
MIM: 611754
Polymorphism
A/G, 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 1253 Missense Mutation TCA,TTA S308L NP_001273611.1
NM_001286683.1 1253 Missense Mutation TCA,TTA S304L NP_001273612.1
NM_016228.3 1253 Missense Mutation TCA,TTA S304L NP_057312.1
NM_182662.1 1253 Missense Mutation TCA,TTA S304L NP_872603.1
XM_006714231.2 1253 Missense Mutation TCA,TTA S343L XP_006714294.1
XM_011532020.2 1253 Missense Mutation TCA,TTA S189L XP_011530322.1

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