Product Details

SNP ID
rs201631122
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:25249270 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGCCACACCATACTCTAAGCTGA[C/T]CACAGCAGGTTCTGATTTAGAAAAC
Phenotype
MIM: 603561
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MTMR6 PubMed Links

Gene Details

Gene
MTMR6
Gene Name
myotubularin related protein 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004685.3 1412 Missense Mutation ATC,GTC I610V NP_004676.3
XM_011535306.1 1412 Missense Mutation ATC,GTC I648V XP_011533608.1
XM_011535307.1 1412 UTR 3 XP_011533609.1
XM_017020845.1 1412 UTR 3 XP_016876334.1
XM_017020846.1 1412 Missense Mutation ATC,GTC I415V XP_016876335.1

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