Product Details

SNP ID
rs186669805
Assay Type
Functionally Tested
NCBI dbSNP Submissions
7
Location
Chr.1:55039847 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCCCCTGGCCCTCATGGGCACC[A/G]TCAGCTCCAGGCGGTCCTGGTGGCC
Phenotype
MIM: 607786
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PCSK9 PubMed Links

Gene Details

Gene
PCSK9
Gene Name
proprotein convertase subtilisin/kexin type 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_174936.3 372 Missense Mutation ATC,GTC I4V NP_777596.2

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