Product Details

SNP ID
rs9350373
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:10398665 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCGTGAGTTCCCCAGGGGAGATC[C/G]GTCCTGAGCCAGCAGGTCGGTGAAC
Phenotype
MIM: 107580
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TFAP2A PubMed Links

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 1294 Missense Mutation CGA,GGA R350G NP_001027451.1
NM_001042425.1 1294 Missense Mutation CGA,GGA R352G NP_001035890.1
NM_003220.2 1294 Missense Mutation CGA,GGA R356G NP_003211.1
XM_006715175.2 1294 Missense Mutation CGA,GGA R401G XP_006715238.1
XM_011514833.2 1294 Missense Mutation CGA,GGA R306G XP_011513135.1
XM_017011232.1 1294 Missense Mutation CGA,GGA R438G XP_016866721.1

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