Product Details

SNP ID
rs61746243
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:64268808 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTATGGCCCTAAGGCTGCCCACA[A/G]TCTCACAACAGTTATGGTGGAGGTC
Phenotype
Polymorphism
A/G, 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 1934 Missense Mutation ACT,ATT T615I NP_060147.2

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