Product Details

SNP ID
rs148704738
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:1467859 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCACCTTTTGCTTATTGTCCGCA[C/T]GCTGTACATGAAGCACAAAAAGACT
Phenotype
MIM: 606538
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MYO1C PubMed Links

Gene Details

Gene
MYO1C
Gene Name
myosin IC
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080779.1 2952 Missense Mutation CAT,CGT H983R NP_001074248.1
NM_001080950.1 2952 Missense Mutation CAT,CGT H964R NP_001074419.1
NM_033375.4 2952 Missense Mutation CAT,CGT H948R NP_203693.3

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