Product Details

SNP ID
rs112451233
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:46344897 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTGGAGATCTTTGGCCATCAATC[C/T]GTGTCAGTCTCCTCTCAGAGCAGAA
Phenotype
MIM: 615394
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NSUN4 PubMed Links

Gene Details

Gene
NSUN4
Gene Name
NOP2/Sun RNA methyltransferase family member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256127.1 417 Missense Mutation CGT,TGT R15C NP_001243056.1
NM_001256128.1 417 Missense Mutation CGT,TGT R15C NP_001243057.1
NM_199044.3 417 Missense Mutation CGT,TGT R64C NP_950245.2

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