Product Details

SNP ID
rs75402116
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47358871 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTCCCCAGGCAGGAGCCCAGGCC[C/T]GGGCTCCAGGCCATCCGCCTCGCCG
Phenotype
MIM: 600958 MIM: 165170
Polymorphism
C/T, 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 2137 Missense Mutation NP_001074016.1
NM_003120.2 2137 Missense Mutation NP_003111.2
XM_011520307.1 2137 Missense Mutation XP_011518609.1
XM_017018173.1 2137 Missense Mutation XP_016873662.1

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