Product Details

SNP ID

rs148787311

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:158671709 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGCCCAAACTCACTGGGCCGCC[C/G]GGGGAAGATGCTGCAGAGGCGTCTG

Phenotype

MIM: 616210 MIM: 231675

Polymorphism

C/G, Transversion 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	342	Silent Mutation	CCC,CCG	P31P	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	342	Intron			NP_001268666.1
NM_001281738.1	342	Intron			NP_001268667.1
NM_004453.3	342	Intron			NP_004444.2

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