Product Details

SNP ID

rs145647521

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:119871988 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCCAGGACTGGCTACTGCGTACA[C/T]CCACAGGTTCACTAACGGGGGCAAG

Phenotype

MIM: 300078 MIM: 300951

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NDUFA1 PubMed Links

Gene Details

Gene

NDUFA1

Gene Name

NADH:ubiquinone oxidoreductase subunit A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004541.3	218	Missense Mutation	ACC,ATC	T26I	NP_004532.1

Gene

RNF113A

Gene Name

ring finger protein 113A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006978.2	218	Intron			NP_008909.1

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