Product Details

SNP ID
rs201644320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:206126774 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAATATCATCATATCGAACAAGA[C/T]TAGGAGAGACTTCTTCCAATCTGTT
Phenotype
MIM: 157655
Polymorphism
C/T, Transition 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 2058 Missense Mutation AAT,AGT N616S NP_001186910.1
NM_001199982.1 2058 Missense Mutation AAT,AGT N541S NP_001186911.1
NM_001199983.1 2058 Missense Mutation AAT,AGT N595S NP_001186912.1
NM_001199984.1 2058 Missense Mutation AAT,AGT N666S NP_001186913.1
NM_005006.6 2058 Missense Mutation AAT,AGT N652S NP_004997.4
XM_017004188.1 2058 Missense Mutation AAT,AGT N399S XP_016859677.1

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