Product Details

SNP ID

rs200568556

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:21498311 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCTGGGTACCTTTGCTTGAACC[A/G]TGCAACCACATCTGGGTCTAGTAGG

Phenotype

MIM: 612472 MIM: 614032

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

METTL3 PubMed Links

Gene Details

Gene

METTL3

Gene Name

methyltransferase like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019852.4	3605	Missense Mutation	CGG,TGG	R564W	NP_062826.2
XM_006720206.3	3605	Missense Mutation	CGG,TGG	R280W	XP_006720269.1
XM_011536968.1	3605	Missense Mutation	CGG,TGG	R542W	XP_011535270.1

Gene

TOX4

Gene Name

TOX high mobility group box family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303523.1	3605	UTR 3			NP_001290452.1
NM_014828.3	3605	UTR 3			NP_055643.1

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