Product Details

SNP ID
rs200380774
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:29074834 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCACTCAGATAACTGTGGGAGTAT[C/T]GCGGTCTGGAGGTGTTGTCGAGAGG
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_078471.3 776 Missense Mutation NP_510880.2
NM_203318.1 776 Missense Mutation 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_004740.3 776 UTR 5 NP_004731.2

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