Product Details

SNP ID
rs184639585
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:56631310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCACCCCTCTCCCACACTGGAGTC[G/T]CCGAATATCAGCCGCCACCCTACTT
Phenotype
MIM: 601602
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TFAP2C PubMed Links

Gene Details

Gene
TFAP2C
Gene Name
transcription factor AP-2 gamma
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003222.3 397 Missense Mutation GCC,TCC A52S NP_003213.1

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