Product Details

SNP ID

rs138053182

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:17719936 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAAGACCTGGACCCGCGCCTGATG[C/T]ACGTGGGCGCGCTCCTGAAACCCGA

Phenotype

MIM: 159970

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYOD1 PubMed Links

Gene Details

Gene

MYOD1

Gene Name

myogenic differentiation 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002478.4	374	Missense Mutation	CAC,TAC	H52Y	NP_002469.2

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