Product Details

SNP ID
rs200099784
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:170064730 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCCAGTTTTACCCCCATCTTAA[C/T]GGCCTTTTCTTCAATCAGTTCTTTT
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 1465 Missense Mutation ATT,GTT I379V NP_001273611.1
NM_001286683.1 1465 Missense Mutation ATT,GTT I375V NP_001273612.1
NM_016228.3 1465 Missense Mutation ATT,GTT I375V NP_057312.1
NM_182662.1 1465 Missense Mutation ATT,GTT I375V NP_872603.1
XM_006714231.2 1465 Missense Mutation ATT,GTT I414V XP_006714294.1
XM_011532020.2 1465 Missense Mutation ATT,GTT I260V XP_011530322.1

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