Product Details

SNP ID

rs185428948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47333215 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACCATGGTCTTCTTGTCGGCTTT[C/G]TGCACTGTGTACCCCCAGAGCTCCG

Phenotype

MIM: 603584 MIM: 600958

Polymorphism

C/G, Transversion 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	3364	Silent Mutation	CAC,CAG	H1103Q	NP_000247.2

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