Product Details

SNP ID
rs142377248
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:119871329 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTGGATTTATAAACCACGCCGAG[A/T]CTCTCGGGCTCATTTTCCTCTTCCT
Phenotype
MIM: 300078 MIM: 300951
Polymorphism
A/T, 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_004541.3 500 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_006978.2 500 Missense Mutation AGA,AGT R95S NP_008909.1

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