Product Details

SNP ID
rs200991750
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:48921431 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCAGCTGCTGATGAACTGGCGGG[G/T]GTAGCACTGGCCCCAGCCCTTCACA
Phenotype
MIM: 602932
Polymorphism
G/T, Transversion 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_001190821.1 807 Missense Mutation ACC,CCC T407P NP_001177750.1
NM_001190822.1 807 Missense Mutation ACC,CCC T193P NP_001177751.1
NM_001190823.1 807 Missense Mutation ACC,CCC T220P NP_001177752.1
NM_005904.3 807 Missense Mutation ACC,CCC T408P NP_005895.1

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