Product Details

SNP ID

rs143972212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:64268547 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATGAGTAACTAACTCACTGATGC[C/T]TGGAGTAGTCTGCCTCCTTGGTGCT

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	2195	Missense Mutation	AAG,AGG	K702R	NP_060147.2

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