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SNP ID

rs984035541

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:150576027 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGGCTATTTTAAGGGATTTTCTA[A/G]TATAACTTTGTAGCATTAACTAAGT

Phenotype

MIM: 300415

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MTM1 PubMed Links

Gene Details

Gene

MTM1

Gene Name

myotubularin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000252.2		Intron			NP_000243.1

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