Product Details

SNP ID
rs138078086
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11100302 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTACAAGTGGGTCTGCGATGGCAG[C/T]GCTGAGTGCCAGGATGGCTCTGATG
Phenotype
MIM: 606945
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LDLR PubMed Links

Gene Details

Gene
LDLR
Gene Name
low density lipoprotein receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000527.4 334 Silent Mutation AGC,AGT S49S NP_000518.1
NM_001195798.1 334 Silent Mutation AGC,AGT S49S NP_001182727.1
NM_001195799.1 334 Silent Mutation AGC,AGT S49S NP_001182728.1
NM_001195800.1 334 Silent Mutation AGC,AGT S49S NP_001182729.1
NM_001195803.1 334 Silent Mutation AGC,AGT S49S NP_001182732.1
XM_011528010.1 334 Silent Mutation AGC,AGT S49S XP_011526312.1

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