Product Details

SNP ID
rs145260557
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:32233780 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACATGTGGACATCTTACTTTGAAG[C/T]GCATTCCTTTCCGTTGGCCTTTGTC
Phenotype
MIM: 606501
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
MTMR12 PubMed Links

Gene Details

Gene
MTMR12
Gene Name
myotubularin related protein 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040446.2 1837 Missense Mutation CAC,CGC H556R NP_001035536.1
NM_001294343.1 1837 Intron NP_001281272.1
NM_001294344.1 1837 Intron NP_001281273.1
XM_005248313.3 1837 Missense Mutation CAC,CGC H556R XP_005248370.1
XM_011514057.1 1837 Missense Mutation CAC,CGC H588R XP_011512359.1
XM_011514058.2 1837 Missense Mutation CAC,CGC H588R XP_011512360.1
XM_011514059.1 1837 Missense Mutation CAC,CGC H532R XP_011512361.1
XM_011514060.1 1837 Intron XP_011512362.1
XM_017009589.1 1837 Missense Mutation CAC,CGC H500R XP_016865078.1
XM_017009590.1 1837 Missense Mutation CAC,CGC H385R XP_016865079.1
XM_017009591.1 1837 Missense Mutation CAC,CGC H385R XP_016865080.1
XM_017009592.1 1837 Missense Mutation CAC,CGC H353R XP_016865081.1
XM_017009593.1 1837 Missense Mutation CAC,CGC H353R XP_016865082.1
XM_017009594.1 1837 Missense Mutation CAC,CGC H353R XP_016865083.1
XM_017009595.1 1837 Missense Mutation CAC,CGC H353R XP_016865084.1
XM_017009596.1 1837 Missense Mutation CAC,CGC H297R XP_016865085.1

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