Product Details

SNP ID
rs9939787
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:8798157 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGCTCTGGTGCTTGGAAAGATGAGA[C/T]GGGGCTGAAGAACTCTTAAGAGCAG
Phenotype
MIM: 601785
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PMM2 PubMed Links

Gene Details

Gene
PMM2
Gene Name
phosphomannomutase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000303.2 Intron NP_000294.1
XM_005255374.4 Intron XP_005255431.1
Gene
TMEM186
Gene Name
transmembrane protein 186
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015421.3 Intron NP_056236.2

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