Product Details

SNP ID
rs199846998
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:48411064 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACTGAGGTAGTCTTTGTCATATT[G/T]GTCTTCTAGTTGGTTAAGTTCTTTC
Phenotype
MIM: 134797
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
FBN1 PubMed Links

Gene Details

Gene
FBN1
Gene Name
fibrillin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000138.4 8937 Missense Mutation AAA,CAA K2848Q NP_000129.3

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