Product Details

SNP ID
rs78229953
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:172633541 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGGATTCCCACTGAGAAGTTGGT[A/G]GGCCAGCTAGTGAAAATCATACATC
Phenotype
MIM: 613234
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NCEH1 PubMed Links

Gene Details

Gene
NCEH1
Gene Name
neutral cholesterol ester hydrolase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146276.1 1395 Silent Mutation CCC,CCT P427P NP_001139748.1
NM_001146277.1 1395 Silent Mutation CCC,CCT P254P NP_001139749.1
NM_001146278.1 1395 Silent Mutation CCC,CCT P254P NP_001139750.1
NM_020792.4 1395 Silent Mutation CCC,CCT P419P NP_065843.3

View Full Product Details