Product Details

SNP ID
rs1140065
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:158682300 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CGTCTAAAACAGTTGGCTGTGGCAC[A/G]TGAAAAGGACATCCGTGTGTGTCTA
Phenotype
MIM: 231675
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ETFDH PubMed Links

Gene Details

Gene
ETFDH
Gene Name
electron transfer flavoprotein dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281737.1 496 Missense Mutation CAT,CGT H47R NP_001268666.1
NM_001281738.1 496 Missense Mutation CAT,CGT H33R NP_001268667.1
NM_004453.3 496 Missense Mutation CAT,CGT H94R NP_004444.2

View Full Product Details