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SNP ID

rs989735224

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:150577357 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCATTGCTGGGCCATATGTTTAGT[G/T]TATGTTTAACTTTACAAGGAACTGT

Phenotype

MIM: 300415

Polymorphism

G/T, Transversion 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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