Product Details

SNP ID
rs144228045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:186554398 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTCAAAGGGAATAATAAATACA[C/T]AGAATTCACAAGGTGGTAAAAGCTG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TBCCD1 PubMed Links

Gene Details

Gene
TBCCD1
Gene Name
TBCC domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134415.1 1501 Missense Mutation TAT,TGT Y467C NP_001127887.1
NM_001286749.1 1501 Missense Mutation TAT,TGT Y371C NP_001273678.1
NM_018138.4 1501 Intron NP_060608.1

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