Product Details

SNP ID

rs3737744

Assay Type

Functionally tested

NCBI dbSNP Submissions

85

Location

Chr.1:46344858 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

ACTGGCTTTGCAGAATTTTGACATG[A/G]CTTACAGTGTGCAGTTTGGAGATCT

Phenotype

MIM: 615394

Polymorphism

A/G, 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	378	Missense Mutation	ACT,GCT	T2A	NP_001243056.1
NM_001256128.1	378	Missense Mutation	ACT,GCT	T2A	NP_001243057.1
NM_199044.3	378	Missense Mutation	ACT,GCT	T51A	NP_950245.2

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