Product Details

SNP ID
rs140527463
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:185192460 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATATCCATGTAAATAGACAACATC[A/C]ATGTGCTCTGGGCTAGCAGCTATCC
Phenotype
MIM: 607037
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
EHHADH PubMed Links

Gene Details

Gene
EHHADH
Gene Name
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166415.1 1996 Missense Mutation ATG,ATT M550I NP_001159887.1
NM_001966.3 1996 Missense Mutation ATG,ATT M646I NP_001957.2
XM_006713525.1 1996 Missense Mutation ATG,ATT M438I XP_006713588.1
XM_011512517.1 1996 Missense Mutation ATG,ATT M550I XP_011510819.1
XM_017005839.1 1996 Missense Mutation ATG,ATT M438I XP_016861328.1
Gene
EHHADH-AS1
Gene Name
EHHADH antisense RNA 1
There are no transcripts associated with this gene.

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