Product Details

SNP ID
rs1044049
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:206126784 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATATCGAACAAGATTAGGAGAGA[A/C]TTCTTCCAATCTGTTCCTTACTTGA
Phenotype
MIM: 157655
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
NDUFS1 PubMed Links

Gene Details

Gene
NDUFS1
Gene Name
NADH:ubiquinone oxidoreductase core subunit S1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199981.1 2048 Missense Mutation GTC,TTC V613F NP_001186910.1
NM_001199982.1 2048 Missense Mutation GTC,TTC V538F NP_001186911.1
NM_001199983.1 2048 Missense Mutation GTC,TTC V592F NP_001186912.1
NM_001199984.1 2048 Missense Mutation GTC,TTC V663F NP_001186913.1
NM_005006.6 2048 Missense Mutation GTC,TTC V649F NP_004997.4
XM_017004188.1 2048 Missense Mutation GTC,TTC V396F XP_016859677.1

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