Product Details

SNP ID

rs147412537

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23587249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCAATACGTAAAGAACACGGTCC[C/T]GGATGCCCTCTAACGTCAAAGGAGG

Phenotype

MIM: 603836

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NDUFAB1 PubMed Links

Gene Details

Gene

NDUFAB1

Gene Name

NADH:ubiquinone oxidoreductase subunit AB1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005003.2	371	Missense Mutation	CAG,CGG	Q80R	NP_004994.1
XM_011545856.2	371	Missense Mutation	CAG,CGG	Q111R	XP_011544158.2

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