Product Details

SNP ID

rs143056366

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:64268818 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAAGGCTGCCCACAATCTCACAAC[A/C]GTTATGGTGGAGGTCTGCACCCTGG

Phenotype

Polymorphism

A/C, 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	1924	Missense Mutation	GGT,TGT	G612C	NP_060147.2

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