Product Details

SNP ID
rs138427094
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:172633691 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACGTCAGAATGTAGGTCTTTGG[A/G]AGGAGCTGCAGCACTGCCTGGTCTG
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 1245 Silent Mutation CTC,CTT L377L NP_001139748.1
NM_001146277.1 1245 Silent Mutation CTC,CTT L204L NP_001139749.1
NM_001146278.1 1245 Silent Mutation CTC,CTT L204L NP_001139750.1
NM_020792.4 1245 Silent Mutation CTC,CTT L369L NP_065843.3

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