Product Details

SNP ID
rs200947844
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50863372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGAGATGGCTTTCTGCTTCAAGA[C/G]GTCATTCACATTCAAGCCGAGGTTG
Phenotype
MIM: 605523
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TOB1 PubMed Links

Gene Details

Gene
TOB1
Gene Name
transducer of ERBB2, 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243877.1 886 Missense Mutation CTC,GTC L216V NP_001230806.1
NM_001243885.1 886 Missense Mutation CTC,GTC L77V NP_001230814.1
NM_005749.3 886 Missense Mutation CTC,GTC L216V NP_005740.1
Gene
TOB1-AS1
Gene Name
TOB1 antisense RNA 1
There are no transcripts associated with this gene.

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