Product Details

SNP ID

rs74956555

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:94971468 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTAAGGTGTTGAAGGTGGGATC[C/T]ACTCCTGAATCTTCTTTCTAGTGGT

Phenotype

MIM: 614530

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NDUFA12 PubMed Links

Gene Details

Gene

NDUFA12

Gene Name

NADH:ubiquinone oxidoreductase subunit A12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258338.1	355	UTR 3			NP_001245267.1
NM_018838.4	355	Nonsense Mutation	TAG,TGG	*137W	NP_061326.1

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