Product Details

SNP ID
rs145478643
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57028775 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCTCACTGCACAGTCACCTCCA[A/T]GCAATGACTCCCCTTTTTTTTGTAG
Phenotype
MIM: 601478
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
MYO1A PubMed Links

Gene Details

Gene
MYO1A
Gene Name
myosin IA
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256041.1 3363 Missense Mutation ATG,TTG M1038L NP_001242970.1
NM_005379.3 3363 Missense Mutation ATG,TTG M1038L NP_005370.1
XM_011538373.2 3363 Intron XP_011536675.1

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