Product Details

SNP ID
rs138711779
Assay Type
Functionally tested
NCBI dbSNP Submissions
18
Location
Chr.1:241532484 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTCAAAGGAAAAAAGTAGCTGTC[A/G]TTGGTGGTGGCTTGGTAAGAATTTT
Phenotype
MIM: 603538
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KMO PubMed Links

Gene Details

Gene
KMO
Gene Name
kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003679.4 461 Missense Mutation ATT,GTT I14V NP_003670.2
XM_005273337.1 461 Missense Mutation ATT,GTT I54V XP_005273394.1
XM_005273338.3 461 UTR 5 XP_005273395.1
XM_017002649.1 461 UTR 5 XP_016858138.1
XM_017002650.1 461 Intron XP_016858139.1

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