Product Details

SNP ID
rs202004233
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:118885278 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTGGTGCCACTCTGAAGCCTGTT[G/T]TAGCCACTGTCACTCAGCCCTGGGT
Phenotype
MIM: 604127
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TBX15 PubMed Links

Gene Details

Gene
TBX15
Gene Name
T-box 15
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152380.2 1716 Nonsense Mutation TAA,TAC *315Y NP_689593.2
XM_005271161.3 1716 Nonsense Mutation TAA,TAC *454Y XP_005271218.1
XM_005271162.1 1716 Nonsense Mutation TAA,TAC *421Y XP_005271219.1
XM_011542052.2 1716 Nonsense Mutation TAA,TAC *139Y XP_011540354.1

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