Product Details

SNP ID
rs201790757
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:56963113 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATGCTCCTTGGCCAAGTCAAGTA[G/T]GGGTTGCACAAGTGAGTCGGGCCTC
Phenotype
MIM: 118470
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CETP PubMed Links

Gene Details

Gene
CETP
Gene Name
cholesteryl ester transfer protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000078.2 239 Nonsense Mutation TAG,TAT *74Y NP_000069.2
NM_001286085.1 239 Nonsense Mutation TAG,TAT *74Y NP_001273014.1
XM_006721124.3 239 Nonsense Mutation TAG,TAT *74Y XP_006721187.1

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