Product Details

SNP ID
rs150515951
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:64268857 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCACCCTGGCTTTTTACTTGAT[C/T]CATCTGAGCTCGGAGGCCTCCTTCC
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MTMR8 PubMed Links

Gene Details

Gene
MTMR8
Gene Name
myotubularin related protein 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017677.3 1885 Missense Mutation AAT,GAT N599D NP_060147.2

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