Product Details

SNP ID

rs147367097

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:17719900 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGACCCGTGTTTCGACTCCCCGGAC[C/G]TGCGCTTCTTCGAAGACCTGGACCC

Phenotype

MIM: 159970

Polymorphism

C/G, Transversion 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	338	Missense Mutation	CTG,GTG	L40V	NP_002469.2

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