Product Details

SNP ID
rs201957009
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:124450992 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGGGAAGCCCGTGGCTGTTGTCG[C/T]AGTTGTGACTGAGCCTTGGTTTACC
Phenotype
MIM: 611244
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TRMT12 PubMed Links

Gene Details

Gene
TRMT12
Gene Name
tRNA methyltransferase 12 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017956.3 186 Missense Mutation GCA,GTA A22V NP_060426.2

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