Product Details

SNP ID
rs199584509
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:604625 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCCTCGAAGGGGGGCCACCCCC[A/C]TCACCTTCAAGCAGCTGCCCCCCAG
Phenotype
MIM: 601010
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
TCF15 PubMed Links

Gene Details

Gene
TCF15
Gene Name
transcription factor 15 (basic helix-loop-helix)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004609.3 595 Missense Mutation AGG,ATG R189M NP_004600.2

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