Product Details

SNP ID
rs142654617
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47355311 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGGTAGGTGAGCTTCTTCTTCAC[C/T]TTCTTGACCTCGCCCGTCTTGCCGT
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 2400 Silent Mutation AAA,AAG K244K NP_001074016.1
NM_003120.2 2400 Silent Mutation AAA,AAG K243K NP_003111.2
XM_011520307.1 2400 Silent Mutation AAA,AAG K156K XP_011518609.1
XM_017018173.1 2400 Silent Mutation AAA,AAG K156K XP_016873662.1

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