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SNP ID

rs200354483

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:203085511 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTACCCCTGGCTGGGGCCCGCCCC[C/T]GCCCCGGTAGCGGAGGTCACGCTCC

Phenotype

MIM: 159980 MIM: 603145

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYOG PubMed Links

Gene Details

Gene

MYOG

Gene Name

myogenin (myogenic factor 4)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002479.5	528	Missense Mutation	AGG,GGG	R151G	NP_002470.2

Gene

PPFIA4

Gene Name

PTPRF interacting protein alpha 4

There are no transcripts associated with this gene.

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