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CTGCCGGCACATCATGTCAGAGGCC[A/G]CCCTCGGTGCTGTAGGCTGTGGAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606973 | ||||||||||||||||||||
Literature Links: |
COG1 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 |
COG1 - component of oligomeric golgi complex 1 | ||||||
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There are no transcripts associated with this gene. |
FAM104A - family with sequence similarity 104 member A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098832.1 | 535 | Missense Mutation | CGG,TGG | R,W 204 | NP_001092302.1 | |
NM_001289410.1 | 535 | UTR 3 | NP_001276339.1 | |||
NM_001289411.1 | 535 | UTR 3 | NP_001276340.1 | |||
NM_001289412.1 | 535 | Missense Mutation | CGG,TGG | R,W 137 | NP_001276341.1 | |
NM_032837.2 | 535 | Missense Mutation | CGG,TGG | R,W 183 | NP_116226.2 |