Product Details

SNP ID
rs201534647
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57783242 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAACAGGCTACTCCTTTGTAAAT[A/T]GCAAGAAAGCTCTGGAGACTTGTGG
Phenotype
MIM: 615258 MIM: 604723
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
METTL21B PubMed Links

Gene Details

Gene
METTL21B
Gene Name
methyltransferase like 21B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015433.2 247 Intron NP_056248.2
NM_206914.1 247 Intron NP_996797.1
Gene
TSFM
Gene Name
Ts translation elongation factor, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172695.1 247 Missense Mutation AGC,TGC S64C NP_001166166.1
NM_001172696.1 247 Missense Mutation AGC,TGC S64C NP_001166167.1
NM_001172697.1 247 Missense Mutation AGC,TGC S64C NP_001166168.1
NM_005726.5 247 Missense Mutation AGC,TGC S64C NP_005717.3

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