Product Details

SNP ID
rs201397880
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57029560 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTCTGTGAGAATCACATGGCCCT[C/T]GGTCAGGAGGAGAATCCGAGAAGAA
Phenotype
MIM: 601478
Polymorphism
C/T, Transition 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 3003 Missense Mutation AAG,GAG K918E NP_001242970.1
NM_005379.3 3003 Missense Mutation AAG,GAG K918E NP_005370.1
XM_011538373.2 3003 Intron XP_011536675.1

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