Product Details

SNP ID
rs183812948
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:21002053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCTTTCCCTTTTCCATCTGGAT[C/T]GGTAAGGATGCTAAGATATTCCTGA
Phenotype
MIM: 107730
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
APOB PubMed Links

Gene Details

Gene
APOB
Gene Name
apolipoprotein B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000384.2 13497 Missense Mutation AAT,GAT N4457D NP_000375.2

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