Product Details

SNP ID
rs199800462
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3494033 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAGCAGGGGCCTGGTTACCTCGA[G/T]GACGGGGTCCGAGGAATACTGCTTC
Phenotype
MIM: 611262
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DOHH PubMed Links

Gene Details

Gene
DOHH
Gene Name
deoxyhypusine hydroxylase/monooxygenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145165.1 506 Missense Mutation ATC,CTC I116L NP_001138637.1
NM_031304.4 506 Missense Mutation ATC,CTC I116L NP_112594.1
XM_011528341.2 506 Missense Mutation ATC,CTC I116L XP_011526643.1

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