Product Details

SNP ID
rs148924046
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:159588158 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATCTGTTACTGATCATGTAAACT[G/T]GATCACACCGCTGGAGAAGCCTCTA
Phenotype
MIM: 104770
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
APCS PubMed Links

Gene Details

Gene
APCS
Gene Name
amyloid P component, serum
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001639.3 218 Missense Mutation TGG,TTG W41L NP_001630.1

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