Product Details

SNP ID
rs121908024
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11100252 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACAGATGCGAAAGAAACGAGTTC[C/T]AGTGCCAAGACGGGAAATGCATCTC
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_000527.4 284 Nonsense Mutation CAG,TAG Q33* NP_000518.1
NM_001195798.1 284 Nonsense Mutation CAG,TAG Q33* NP_001182727.1
NM_001195799.1 284 Nonsense Mutation CAG,TAG Q33* NP_001182728.1
NM_001195800.1 284 Nonsense Mutation CAG,TAG Q33* NP_001182729.1
NM_001195803.1 284 Nonsense Mutation CAG,TAG Q33* NP_001182732.1
XM_011528010.1 284 Nonsense Mutation CAG,TAG Q33* XP_011526312.1

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