Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGGCAAGATGGCTACGGCAGGGGG[G/T]GGCTCTGGGGCTGACCCGGGAAGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 601924 MIM: 605254 | ||||||||||||||||||||
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 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098398.1 | 359 | UTR 5 | NP_001091868.1 | |||
NM_004371.3 | 359 | UTR 5 | NP_004362.2 |
NCSTN - nicastrin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290184.1 | 359 | UTR 5 | NP_001277113.1 | |||
NM_001290186.1 | 359 | Silent Mutation | GGG,GGT | G,G 6 | NP_001277115.1 | |
NM_015331.2 | 359 | Silent Mutation | GGG,GGT | G,G 6 | NP_056146.1 | |
XM_005245053.4 | 359 | Silent Mutation | GGG,GGT | G,G 6 | XP_005245110.1 | |
XM_011509363.2 | 359 | Silent Mutation | GGG,GGT | G,G 6 | XP_011507665.1 |