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- SNP ID:
- rs112685797
- Gene
-
COPAPEX19 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 160292154 - 160292154 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CAACCGTTGGATGAGGTCATTAAGC[C/T]TCAGGCCCACAGCTGGTACACCATT
Genomic Map
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Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
|
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Phenotype: |
MIM: 601924
MIM: 600279
|
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Literature Links: |
COPA 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 |
| COPA - coatomer protein complex subunit alpha | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001098398.1 | 3426 | Missense Mutation | AAG,AGG | K,R 1011 | NP_001091868.1 | |
| NM_004371.3 | 3426 | Missense Mutation | AAG,AGG | K,R 1002 | NP_004362.2 | |
| PEX19 - peroxisomal biogenesis factor 19 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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