Product Details

SNP ID

rs139701251

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3854647 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAATGCCGTTTGCTGAAGACAAGA[C/T]CTATAAGTATATCTGCCGCAATTTC

Phenotype

MIM: 609676

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAVS PubMed Links

Gene Details

Gene

MAVS

Gene Name

mitochondrial antiviral signaling protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206491.1	195	UTR 5			NP_001193420.1
NM_020746.4	195	Missense Mutation	ACC,ATC	T8I	NP_065797.2

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