Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606990 MIM: 605810 | ||||||||||||||||||||
Literature Links: |
COPB2 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 |
COPB2 - coatomer protein complex subunit beta 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004766.2 | 3963 | Intron | NP_004757.1 | |||
XM_017007512.1 | 3963 | UTR 3 | XP_016863001.1 | |||
XM_017007513.1 | 3963 | UTR 3 | XP_016863002.1 |
MRPS22 - mitochondrial ribosomal protein S22 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020191.2 | 3963 | Missense Mutation | GAA,GAC | E,D 335 | NP_064576.1 | |
XM_005247640.2 | 3963 | Missense Mutation | GAA,GAC | E,D 334 | XP_005247697.1 | |
XM_006713703.3 | 3963 | Missense Mutation | GAA,GAC | E,D 317 | XP_006713766.1 | |
XM_011512995.2 | 3963 | Missense Mutation | GAA,GAC | E,D 294 | XP_011511297.1 | |
XM_011512996.2 | 3963 | Missense Mutation | GAA,GAC | E,D 293 | XP_011511298.1 |