Product Details

SNP ID

rs8108811

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50424101 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCCGACACCACAGCAACAGAAAT[A/G]ATAATGCTATCAACCCCCAACGGTT

Phenotype

MIM: 160793 MIM: 174761 MIM: 606802

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MYBPC2 PubMed Links

Gene Details

Gene

MYBPC2

Gene Name

myosin binding protein C, fast type

There are no transcripts associated with this gene.

Gene

POLD1

Gene Name

DAN polymerase delta 1, catalytic subunit

There are no transcripts associated with this gene.

Gene

SPIB

Gene Name

Spi-B transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243998.1		Intron			NP_001230927.1
NM_001243999.1		Intron			NP_001230928.1
NM_001244000.1		Intron			NP_001230929.1
NM_003121.4		Intron			NP_003112.2

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