Product Details

SNP ID
rs142747169
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:128259818 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCCATGTCGACACTCTCTAGGCT[C/G]ATCTGTTCAACCTGGAGGAAGAACA
Phenotype
MIM: 612570
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
FBN2 PubMed Links

Gene Details

Gene
FBN2
Gene Name
fibrillin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001999.3 8978 Silent Mutation ATC,ATG I2792M NP_001990.2
XM_017009228.1 8978 Missense Mutation ATC,ATG I2741M XP_016864717.1

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