Product Details

SNP ID

rs187705120

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47332891 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAACCATATTCTGGCTGAAGACG[C/T]GGAAGTAGTAGCCATTGCCAATGAT

Phenotype

MIM: 603584 MIM: 600958

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MADD PubMed Links

Gene Details

Gene

MADD

Gene Name

MAP kinase activating death domain

There are no transcripts associated with this gene.

Gene

MYBPC3

Gene Name

myosin binding protein C, cardiac

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000256.3	3468	Missense Mutation			NP_000247.2

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