Product Details

SNP ID
rs143971376
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:114355796 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCCGAGGGACCAGGGGCCCCGA[C/G]GTGAAGTGAGCGGAGAAGTGCTGGT
Phenotype
MIM: 601620
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TBX5 PubMed Links

Gene Details

Gene
TBX5
Gene Name
T-box 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000192.3 3711 Silent Mutation ACC,ACG T431T NP_000183.2
NM_080717.2 3711 Silent Mutation ACC,ACG T381T NP_542448.1
NM_181486.2 3711 Silent Mutation ACC,ACG T431T NP_852259.1
XM_017019912.1 3711 Silent Mutation ACC,ACG T447T XP_016875401.1

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