Product Details

SNP ID

rs149224531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:120602224 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTACAGGATAGGAAAGAAAAAC[G/T]TATCCAGGAAGGAAAATTGGATCGA

Phenotype

MIM: 603840

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

NDUFB4 PubMed Links

Gene Details

Gene

NDUFB4

Gene Name

NADH:ubiquinone oxidoreductase subunit B4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168331.1	1373	UTR 3			NP_001161803.1
NM_004547.5	1373	Missense Mutation	CGT,CTT	R115L	NP_004538.2

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