Product Details

SNP ID

rs144554730

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:80717403 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCAAGAGGTGTACCACGACCAAC[A/C]CCAACCAGAGGCTGCCCAAGGTGGA

Phenotype

MIM: 159990 MIM: 159991

Polymorphism

A/C, Transversion 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	475	Missense Mutation	ACC,CCC	T114P	NP_005584.2

Gene

MYF6

Gene Name

myogenic factor 6

There are no transcripts associated with this gene.

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