Product Details

SNP ID
rs147626509
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:91870367 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGGGCGTGTCATCACCAGGGTGG[C/T]ACTGATGGGGCCCGTTTGCTATGGA
Phenotype
MIM: 604580
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FBLN5 PubMed Links

Gene Details

Gene
FBLN5
Gene Name
fibulin 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006329.3 1767 Missense Mutation ACC,GCC T402A NP_006320.2
XM_005267267.3 1767 Missense Mutation ACC,GCC T419A XP_005267324.1
XM_011536356.1 1767 Silent Mutation GTA,GTG V478V XP_011534658.1
XM_011536357.1 1767 Silent Mutation GTA,GTG V461V XP_011534659.1
XM_011536358.1 1767 Silent Mutation GTA,GTG V405V XP_011534660.1
XM_017020929.1 1767 Missense Mutation ACC,GCC T346A XP_016876418.1
Gene
TC2N
Gene Name
tandem C2 domains, nuclear
There are no transcripts associated with this gene.

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