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- SNP ID:
- rs143119651
- Gene
-
EXOSC10LOC105376736MTOR - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 11109322 - 11109322 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CTTATCTCGAACCCTGTTAATAATC[C/T]GGATAGCTTTCTTATTTAGGGCCTC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
12 submissions
|
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Phenotype: |
MIM: 605960
MIM: 601231
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Literature Links: |
EXOSC10 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 |
| EXOSC10 - exosome component 10 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| LOC105376736 - uncharacterized LOC105376736 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| MTOR - mechanistic target of rapamycin | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_004958.3 | 7080 | Missense Mutation | CAG,CGG | Q,R 2499 | NP_004949.1 | |
| XM_005263438.2 | 7080 | Missense Mutation | CAG,CGG | Q,R 2499 | XP_005263495.1 | |
| XM_011541166.2 | 7080 | Intron | XP_011539468.1 | |||
| XM_017000900.1 | 7080 | Missense Mutation | CAG,CGG | Q,R 2272 | XP_016856389.1 | |
| XM_017000901.1 | 7080 | Missense Mutation | CAG,CGG | Q,R 2083 | XP_016856390.1 | |
| XM_017000902.1 | 7080 | Intron | XP_016856391.1 | |||
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