Product Details

SNP ID
rs199907421
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:140233284 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGAGTTTCGACAGTTTTGCCCAT[A/C]CATATATAATTTTGCATATACCGGA
Phenotype
MIM: 608766
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
LRP1B PubMed Links

Gene Details

Gene
LRP1B
Gene Name
LDL receptor related protein 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_017004342.1 8673 Missense Mutation GAT,TAT D2852Y XP_016859831.1

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