Product Details

SNP ID
rs201042785
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:48921696 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACCTCCCGCGTCAGCTGGATGCC[A/G]CAGCCGATTTTGCTCCGCACCTTCT
Phenotype
MIM: 602932
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SMAD7 PubMed Links

Gene Details

Gene
SMAD7
Gene Name
SMAD family member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190821.1 542 Silent Mutation TGC,TGT C318C NP_001177750.1
NM_001190822.1 542 Silent Mutation TGC,TGT C104C NP_001177751.1
NM_001190823.1 542 Silent Mutation TGC,TGT C131C NP_001177752.1
NM_005904.3 542 Silent Mutation TGC,TGT C319C NP_005895.1

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