Product Details

SNP ID

rs200367701

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50435800 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGCCCCACCCGAGGACCAGTCCC[C/G]GACTGCAGAGGAGCCCACCGGCGTT

Phenotype

MIM: 160793 MIM: 606802

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MYBPC2 PubMed Links

Gene Details

Gene

MYBPC2

Gene Name

myosin binding protein C, fast type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004533.3	185	Missense Mutation	CCG,CGG	P45R	NP_004524.3

Gene

SPIB

Gene Name

Spi-B transcription factor

There are no transcripts associated with this gene.

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