Product Details

SNP ID

rs147579391

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:59138302 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGCACTGTGGCACCTGAGGCTTG[G/T]GCTTGGGCTGGGGCTTGGGTCTGCC

Phenotype

MIM: 601479

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MYO1E PubMed Links

Gene Details

Gene

MYO1E

Gene Name

myosin IE

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004998.3	3518	Missense Mutation	CAC,CCC	H1049P	NP_004989.2

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