Product Details

SNP ID
rs146161811
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:64268830 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAATCTCACAACAGTTATGGTGGA[G/T]GTCTGCACCCTGGCTTTTTACTTGA
Phenotype
Polymorphism
G/T, Transversion 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 1912 Missense Mutation NP_060147.2

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