Product Details

SNP ID

rs199982057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:50715377 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACTCTCTCCACCACTCGCAACAG[C/T]ACTACCAGCAGATCCACCACGGGGA

Phenotype

MIM: 610161

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TFAP2D PubMed Links

Gene Details

Gene

TFAP2D

Gene Name

transcription factor AP-2 delta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_172238.3	813	Missense Mutation	CAC,TAC	H101Y	NP_758438.2

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