Product Details

SNP ID

rs201591227

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:10398475 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGGCGTTGTTGTCCGTGTGGCTG[G/T]TGGGGTTGTTGCTGAGGTACATTTT

Phenotype

MIM: 107580

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

TFAP2A PubMed Links

Additional Information

For this assay, SNP(s) [rs3734391] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

TFAP2A

Gene Name

transcription factor AP-2 alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001032280.2	1484	Missense Mutation	AAC,ACC	N413T	NP_001027451.1
NM_001042425.1	1484	Missense Mutation	AAC,ACC	N415T	NP_001035890.1
NM_003220.2	1484	Missense Mutation	AAC,ACC	N419T	NP_003211.1
XM_006715175.2	1484	Missense Mutation	AAC,ACC	N464T	XP_006715238.1
XM_011514833.2	1484	Missense Mutation	AAC,ACC	N369T	XP_011513135.1
XM_017011232.1	1484	Missense Mutation	AAC,ACC	N501T	XP_016866721.1

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