Product Details

SNP ID

rs201194546

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:39258375 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGATTCAATCTGGAAATCAAAGG[C/T]GAGTTCTGATGACAATTTCCTGCTA

Phenotype

MIM: 604921

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAP4K3 PubMed Links

Gene Details

Gene

MAP4K3

Gene Name

mitogen-activated protein kinase kinase kinase kinase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270425.1	2768	Missense Mutation	ACC,GCC	T794A	NP_001257354.1
NM_003618.3	2768	Missense Mutation	ACC,GCC	T815A	NP_003609.2

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