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TTTTGTCCATGGCCTTGAGGGCCTC[A/G]GTGAGATAGTTCTGCAGGGCCGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 107580 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TFAP2A PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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TFAP2A - transcription factor AP-2 alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001032280.2 | 1437 | Silent Mutation | ACC,ACT | T,T 397 | NP_001027451.1 | |
NM_001042425.1 | 1437 | Silent Mutation | ACC,ACT | T,T 399 | NP_001035890.1 | |
NM_003220.2 | 1437 | Silent Mutation | ACC,ACT | T,T 403 | NP_003211.1 | |
XM_006715175.2 | 1437 | Silent Mutation | ACC,ACT | T,T 448 | XP_006715238.1 | |
XM_011514833.2 | 1437 | Silent Mutation | ACC,ACT | T,T 353 | XP_011513135.1 | |
XM_017011232.1 | 1437 | Silent Mutation | ACC,ACT | T,T 485 | XP_016866721.1 |