Product Details

SNP ID
rs17857335
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:172633675 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAGGACATCATGCTCACACGTCA[G/T]AATGTAGGTCTTTGGGAGGAGCTGC
Phenotype
MIM: 613234
Polymorphism
G/T, Transversion 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 1261 Missense Mutation ATG,CTG M383L NP_001139748.1
NM_001146277.1 1261 Missense Mutation ATG,CTG M210L NP_001139749.1
NM_001146278.1 1261 Missense Mutation ATG,CTG M210L NP_001139750.1
NM_020792.4 1261 Missense Mutation ATG,CTG M375L NP_065843.3

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