Product Details

SNP ID

rs187248590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:158680583 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTACCCATTATACTATTTATCCC[C/T]GGGATAAGGACAAGAGATGGGAAGG

Phenotype

MIM: 616210 MIM: 231675

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C4orf46 PubMed Links

Gene Details

Gene

C4orf46

Gene Name

chromosome 4 open reading frame 46

There are no transcripts associated with this gene.

Gene

ETFDH

Gene Name

electron transfer flavoprotein dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281737.1	507	Intron			NP_001268666.1
NM_001281738.1	507	Intron			NP_001268667.1
NM_004453.3	507	Missense Mutation	CGG,TGG	R51W	NP_004444.2

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