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CCATCGGGGGGAGCAAGCCCCGCGT[C/T]ACCACTCCCAACGTGGTCAAGCACA
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 167411 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC101929608 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)
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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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LOC101929608 - uncharacterized LOC101929608 | ||||||
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There are no transcripts associated with this gene. |
PAX1 - paired box 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257096.1 | 570 | Silent Mutation | GTC,GTT | V,V 172 | NP_001244025.1 | |
NM_006192.4 | 570 | Silent Mutation | GTC,GTT | V,V 172 | NP_006183.2 |