Product Details

SNP ID

rs202230117

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:80717208 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGCACAAAGCAGAGCTGCAGGGC[C/T]CAGATGAGGACGAGCACGTGCGAGC

Phenotype

MIM: 159990 MIM: 159991

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYF5 PubMed Links

Gene Details

Gene

MYF5

Gene Name

myogenic factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005593.2	280	Missense Mutation	CCA,TCA	P49S	NP_005584.2

Gene

MYF6

Gene Name

myogenic factor 6

There are no transcripts associated with this gene.

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