Product Details

SNP ID
rs139975758
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:201085472 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTTTTTCTAGCAATGAAGCTTGG[A/C]GATACATGGGTGGCTTTGCAAAGAG
Phenotype
MIM: 603839
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
NDUFB3 PubMed Links

Gene Details

Gene
NDUFB3
Gene Name
NADH:ubiquinone oxidoreductase subunit B3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257102.1 477 Silent Mutation AGA,CGA R52R NP_001244031.1
NM_002491.2 477 Silent Mutation AGA,CGA R52R NP_002482.1
XM_011511230.2 477 Intron XP_011509532.1
XM_017004186.1 477 Silent Mutation AGA,CGA R52R XP_016859675.1

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