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GGGAGCTGCAGTCCTGTGGTGCCTC[C/T]GGGCAGATAGCTGAGCATTTCATCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 314310 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TFE3 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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TFE3 - transcription factor binding to IGHM enhancer 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282142.1 | 1144 | Missense Mutation | AGA,GGA | R,G 180 | NP_001269071.1 | |
NM_006521.5 | 1144 | Missense Mutation | AGA,GGA | R,G 285 | NP_006512.2 |