Product Details

SNP ID
rs143569609
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:169129070 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGTTTAGATTTTCGTTTGAAGAG[A/T]TTCCATTTTGTCACCTAAATGAAAA
Phenotype
MIM: 600073
Polymorphism
A/T, 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 13828 Missense Mutation AAA,AAT K4581N NP_004516.2
XM_011511183.2 13828 Missense Mutation AAA,AAT K4538N XP_011509485.1
XM_011511184.2 13828 Missense Mutation AAA,AAT K3818N XP_011509486.1

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