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TCCGGGGCATTGTCAAGCATCTGGA[A/G]GGTATGTATGTTTTTTCAGAGGCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606493 MIM: 172250 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EXOSC1 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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EXOSC1 - exosome component 1 | ||||||
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There are no transcripts associated with this gene. |
LOC644215 - uncharacterized LOC644215 | ||||||
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There are no transcripts associated with this gene. |
PGAM1 - phosphoglycerate mutase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317079.1 | 707 | Silent Mutation | GAA,GAG | E,E 183 | NP_001304008.1 | |
NM_002629.3 | 707 | Intron | NP_002620.1 |