Product Details

SNP ID
rs147069763
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:137214268 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCAGCACGGGCTCTGAGGGGCAG[C/T]GGGTAGCTCACCCCGGCTCTCAGGA
Phenotype
MIM: 606073 MIM: 616499
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NDOR1 PubMed Links

Gene Details

Gene
NDOR1
Gene Name
NADPH dependent diflavin oxidoreductase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144026.2 1847 Missense Mutation CGG,TGG R193W NP_001137498.1
NM_001144027.2 1847 Missense Mutation CGG,TGG R159W NP_001137499.1
NM_001144028.2 1847 Missense Mutation CGG,TGG R193W NP_001137500.1
NM_014434.3 1847 Missense Mutation CGG,TGG R193W NP_055249.1
XM_011518545.1 1847 Missense Mutation CGG,TGG R159W XP_011516847.1
XM_011518547.1 1847 Missense Mutation CGG,TGG R124W XP_011516849.1
XM_011518548.2 1847 UTR 5 XP_011516850.1
XM_017014626.1 1847 Missense Mutation CGG,TGG R193W XP_016870115.1
XM_017014627.1 1847 Missense Mutation CGG,TGG R193W XP_016870116.1
Gene
RNF208
Gene Name
ring finger protein 208
There are no transcripts associated with this gene.

Gene
TMEM203
Gene Name
transmembrane protein 203
There are no transcripts associated with this gene.

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