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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