Product Details

SNP ID
rs76270749
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:29074062 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACACACACTTGTCTGCGTAGGC[C/T]TGCTCAACCCAGCCCAGCAGCACCG
Phenotype
MIM: 610067 MIM: 609517
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MYO18A PubMed Links

Gene Details

Gene
MYO18A
Gene Name
myosin XVIIIA
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_078471.3 1548 UTR 3 NP_510880.2
NM_203318.1 1548 UTR 3 NP_976063.1
Gene
TIAF1
Gene Name
TGFB1-induced anti-apoptotic factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004740.3 1548 Silent Mutation CAA,CAG Q46Q NP_004731.2

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