Product Details

SNP ID

rs139283703

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:35588372 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGCAGCCTCTCAGCCCTCTCCT[G/T]GGCCAAAGACAGCCTGGTGGGCGGC

Phenotype

MIM: 614428

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

TFAP2E PubMed Links

Gene Details

Gene

TFAP2E

Gene Name

transcription factor AP-2 epsilon

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178548.3	3116	Missense Mutation	TGG,TTG	W202L	NP_848643.2
XM_017001139.1	3116	Missense Mutation	TGG,TTG	W202L	XP_016856628.1

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