Product Details

SNP ID
rs116309908
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:32231836 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACACTGAACCACCACCCAGTGCT[G/T]CCTGCCTGCTCGGTTCTGTGCTCAG
Phenotype
MIM: 606501
Polymorphism
G/T, Transversion 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 Intron NP_001035536.1
NM_001294343.1 Intron NP_001281272.1
NM_001294344.1 Intron NP_001281273.1
XM_005248313.3 Intron XP_005248370.1
XM_011514057.1 Intron XP_011512359.1
XM_011514058.2 Intron XP_011512360.1
XM_011514059.1 Intron XP_011512361.1
XM_011514060.1 Intron XP_011512362.1
XM_017009589.1 Intron XP_016865078.1
XM_017009590.1 Intron XP_016865079.1
XM_017009591.1 Intron XP_016865080.1
XM_017009592.1 Intron XP_016865081.1
XM_017009593.1 Intron XP_016865082.1
XM_017009594.1 Intron XP_016865083.1
XM_017009595.1 Intron XP_016865084.1
XM_017009596.1 Intron XP_016865085.1

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