Product Details

SNP ID
rs112043518
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:169128729 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAAGTGTCTTCTGTTGCAGAATA[C/G]GTTGGAGTTGGGTCTCTTCTCGAAG
Phenotype
MIM: 600073
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
LRP2 PubMed Links

Gene Details

Gene
LRP2
Gene Name
LDL receptor related protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004525.2 13987 Silent Mutation ACC,ACG T4634T NP_004516.2
XM_011511183.2 13987 Silent Mutation ACC,ACG T4591T XP_011509485.1
XM_011511184.2 13987 Silent Mutation ACC,ACG T3871T XP_011509486.1

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