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GCCTCTGCTGGAGGGCACAGAATGT[G/T]AGACCCCTGCCCAGAAGCCTGGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606492 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EXOSC5 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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EXOSC5 - exosome component 5 | ||||||
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There are no transcripts associated with this gene. |
TMEM91 - transmembrane protein 91 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042595.2 | 217 | Missense Mutation | GAG,TAG | E,* 20 | NP_001036060.1 | |
NM_001098821.1 | 217 | Missense Mutation | GAG,TAG | E,* 20 | NP_001092291.1 | |
NM_001098822.1 | 217 | Missense Mutation | GAG,TAG | E,* 20 | NP_001092292.1 | |
NM_001098823.1 | 217 | Missense Mutation | GAG,TAG | E,* 20 | NP_001092293.1 | |
NM_001098824.1 | 217 | Missense Mutation | GAG,TAG | E,* 20 | NP_001092294.1 | |
NM_001098825.1 | 217 | Missense Mutation | GAG,TAG | E,* 20 | NP_001092295.1 |