Product Details

SNP ID
rs141504721
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:41394888 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTCCTGCCAGTAGGGTCCCCCGC[A/G]GGTGAACATGAAGTAACTATACATC
Phenotype
MIM: 606934
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NDUFAF1 PubMed Links

Gene Details

Gene
NDUFAF1
Gene Name
NADH:ubiquinone oxidoreductase complex assembly factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016013.3 1058 Missense Mutation CGC,TGC R244C NP_057097.2
XM_006720555.2 1058 Missense Mutation CGC,TGC R244C XP_006720618.1
XM_011521658.1 1058 Missense Mutation CGC,TGC R244C XP_011519960.1
XM_011521659.2 1058 Missense Mutation CGC,TGC R244C XP_011519961.1
XM_017022293.1 1058 Intron XP_016877782.1

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