Product Details

SNP ID

rs199546824

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:158680556 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTTCAACTTCTACTGTGCCTCGA[A/C]TTACTACCCATTATACTATTTATCC

Phenotype

MIM: 616210 MIM: 231675

Polymorphism

A/C, Transversion 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	480	Intron			NP_001268666.1
NM_001281738.1	480	Intron			NP_001268667.1
NM_004453.3	480	Missense Mutation	ATT,CTT	I42L	NP_004444.2

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