Product Details

SNP ID
rs522599
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:150569523 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TATAGCATTTTAGAATTGACTGGCA[C/T]CCTGAAGTTTACATTGTTCATTTGT
Phenotype
MIM: 300415
Polymorphism
C/T, 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
XM_005274687.2 Intron XP_005274744.1
XM_011531171.1 Intron XP_011529473.1
XM_011531172.1 Intron XP_011529474.1
XM_011531173.2 Intron XP_011529475.1
XM_017029547.1 Intron XP_016885036.1
XM_017029548.1 Intron XP_016885037.1
XM_017029549.1 Intron XP_016885038.1
XM_017029550.1 Intron XP_016885039.1
XM_017029551.1 Intron XP_016885040.1

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