Product Details

SNP ID
rs200656693
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:42903278 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCACCCAGTTCTTACCCGCCAG[C/T]TGTGAATAAGGGCAGGAAGGTAGCT
Phenotype
MIM: 602184
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NDUFV3 PubMed Links

Gene Details

Gene
NDUFV3
Gene Name
NADH:ubiquinone oxidoreductase subunit V3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001503.1 332 Intron NP_001001503.1
NM_021075.3 332 Missense Mutation GCT,GTT A89V NP_066553.3
XM_011529586.2 332 Missense Mutation GCT,GTT A89V XP_011527888.1
XM_017028359.1 332 Intron XP_016883848.1

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