Product Details

SNP ID

rs112416531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:5893018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTGGGTGCGGGGTGGGTGTGTC[C/T]GCCCTTTCTCAGGGAGCCCGAGGCC

Phenotype

MIM: 612638

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NDUFA11 PubMed Links

Gene Details

Gene

NDUFA11

Gene Name

NADH:ubiquinone oxidoreductase subunit A11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193375.1	891	Missense Mutation	AGA,GGA	R196G	NP_001180304.1
NM_175614.4	891	Intron			NP_783313.1

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