Product Details

SNP ID
rs3197823
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47355447 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGTGCTTGGACGAGAACTGGAAG[A/G]TGCCCTTGTCCTTGTCCACCCACCA
Phenotype
MIM: 600958 MIM: 165170
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MYBPC3 PubMed Links

Gene Details

Gene
MYBPC3
Gene Name
myosin binding protein C, cardiac
There are no transcripts associated with this gene.

Gene
SPI1
Gene Name
Spi-1 proto-oncogene
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080547.1 2264 Missense Mutation ACC,ATC T199I NP_001074016.1
NM_003120.2 2264 Missense Mutation ACC,ATC T198I NP_003111.2
XM_011520307.1 2264 Missense Mutation ACC,ATC T111I XP_011518609.1
XM_017018173.1 2264 Missense Mutation ACC,ATC T111I XP_016873662.1

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