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CCCTCTGCTATTTGCAGGCAATGGA[C/T]GAGCCGGGAATGAGCCTCCTAGACC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 608458 MIM: 614428 | ||||||||||||||||||||
Literature Links: |
NCDN PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
NCDN - neurochondrin | ||||||
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There are no transcripts associated with this gene. |
TFAP2E - transcription factor AP-2 epsilon | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_178548.3 | 3030 | Silent Mutation | GAC,GAT | D,D 173 | NP_848643.2 | |
XM_017001139.1 | 3030 | Missense Mutation | GAC,GAT | D,D 173 | XP_016856628.1 |