Product Details

SNP ID
rs11552407
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:42897001 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGTCTGCGGAATCAGGGAAGAG[G/T]GAAAAGGGTCAGCCACAGAATTCCA
Phenotype
MIM: 602184
Polymorphism
G/T, Transversion 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_001001503.1 189 Missense Mutation AGG,AGT R41S NP_001001503.1
NM_021075.3 189 Missense Mutation AGG,AGT R41S NP_066553.3
XM_011529586.2 189 Missense Mutation AGG,AGT R41S XP_011527888.1
XM_017028359.1 189 Missense Mutation AGG,AGT R41S XP_016883848.1

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