Product Details

SNP ID
rs143537669
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:11284947 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGACAATGTGGTGCTGCACCGGC[A/C]TTTCTACCCGGCTGTCGAGGGCACC
Phenotype
MIM: 606260
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MTMR9 PubMed Links

Gene Details

Gene
MTMR9
Gene Name
myotubularin related protein 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015458.3 415 Missense Mutation CAT,CCT H20P NP_056273.2
XM_011543830.2 415 UTR 5 XP_011542132.1
XM_011543831.2 415 Intron XP_011542133.1
XM_017013753.1 415 Missense Mutation CAT,CCT H20P XP_016869242.1

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