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- SNP ID:
- rs138837188
- Gene
-
COPB1PSMA1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.11: 14507695 - 14507695 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
GTGGTCTTTCTTCAAGACCTTCCAG[A/G]AATGGAGACACATCATCATCATCAT
Genomic Map
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Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 600959
MIM: 602854
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Literature Links: |
COPB1 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 |
| COPB1 - coatomer protein complex subunit beta 1 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| PSMA1 - proteasome subunit alpha 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001143937.1 | 842 | Intron | NP_001137409.1 | |||
| NM_002786.3 | 842 | Silent Mutation | TTC,TTT | F,F 232 | NP_002777.1 | |
| NM_148976.2 | 842 | Silent Mutation | TTC,TTT | F,F 238 | NP_683877.1 | |
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