Product Details

SNP ID
rs201124053
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:159588139 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGTTTGTATTTCCTAGAGAATCT[C/G]TTACTGATCATGTAAACTTGATCAC
Phenotype
MIM: 104770
Polymorphism
C/G, 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_001639.3 199 Missense Mutation CTT,GTT L35V NP_001630.1

View Full Product Details