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ATGGAGGGGCTGTTCTTGGCTGTGG[A/G]TGAAATTGTAGATGGAGGGTAAGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615472 | ||||||||||||||||||||
Literature Links: |
COPZ1 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 |
COPZ1 - coatomer protein complex subunit zeta 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271734.1 | 432 | Missense Mutation | GAT,GGT | D,G 103 | NP_001258663.1 | |
NM_001271735.1 | 432 | Missense Mutation | GAT,GGT | D,G 126 | NP_001258664.1 | |
NM_001271736.1 | 432 | Missense Mutation | GAT,GGT | D,G 134 | NP_001258665.1 | |
NM_016057.2 | 432 | Missense Mutation | GAT,GGT | D,G 126 | NP_057141.1 | |
XM_017018997.1 | 432 | Missense Mutation | GAT,GGT | D,G 126 | XP_016874486.1 |
LOC102724050 - uncharacterized LOC102724050 | ||||||
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There are no transcripts associated with this gene. |