Product Details

SNP ID
rs148543446
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:158671687 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCTGCTCCTGCTCGGAACTGGCC[A/G]GCCCAAACTCACTGGGCCGCCCGGG
Phenotype
MIM: 616210 MIM: 231675
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C4orf46 PubMed Links

Gene Details

Gene
C4orf46
Gene Name
chromosome 4 open reading frame 46
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008393.3 364 Missense Mutation CGG,TGG R39W NP_001008394.1
Gene
ETFDH
Gene Name
electron transfer flavoprotein dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281737.1 364 Intron NP_001268666.1
NM_001281738.1 364 Intron NP_001268667.1
NM_004453.3 364 Intron NP_004444.2

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