Product Details

SNP ID

rs111589211

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:46344804 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCCTGTCCTCTCTCTTTTAGGCT[A/G]CCACAGAGCCCAAATTCCCTGCTGT

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	324	UTR 5			NP_001243056.1
NM_001256128.1	324	UTR 5			NP_001243057.1
NM_199044.3	324	Missense Mutation	ACC,GCC	T33A	NP_950245.2

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