Product Details

SNP ID

rs139731837

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:124451159 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACCTGCAGGAGCTGAGGAATCGT[G/T]TTGCCCCAGGCAGTCCCTGTATGCT

Phenotype

MIM: 611244

Polymorphism

G/T, Transversion 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	353	Missense Mutation	GTT,TTT	V78F	NP_060426.2

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