Product Details

SNP ID

rs141717820

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:119870813 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGACAACTGGGTTTTGGAAGCT[C/G]TGGCGACAGATGAAACACTTGAATG

Phenotype

MIM: 300078 MIM: 300951

Polymorphism

C/G, Transversion 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	1016	Intron			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	1016	Missense Mutation	CAC,CAG	H267Q	NP_008909.1

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