Product Details

SNP ID

rs4752985

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47359612 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAAGGCGTTGGGATGGGGAGGCT[C/T]GGTGAGGGTGCGAGAATTATCTGGG

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		Intron			NP_001074016.1
NM_003120.2		Intron			NP_003111.2
XM_011520307.1		Intron			XP_011518609.1
XM_017018173.1		Intron			XP_016873662.1

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