Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCAGGTGGTGACGCAGAATCCCGG[C/T]GCCGCCCGCCCACCCAGCCCATGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606821 | ||||||||||||||||||||
Literature Links: |
COG5 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 |
COG5 - component of oligomeric golgi complex 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001161520.1 | 11 | Missense Mutation | CAC,CGC | H,R 8 | NP_001154992.1 | |
NM_006348.3 | 11 | Missense Mutation | CAC,CGC | H,R 8 | NP_006339.3 | |
NM_181733.2 | 11 | Missense Mutation | CAC,CGC | H,R 8 | NP_859422.2 |
DUS4L - dihydrouridine synthase 4 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270419.1 | 11 | UTR 5 | NP_001257348.1 | |||
NM_181581.2 | 11 | UTR 5 | NP_853559.1 |