Product Details
- SNP ID
-
rs201454609
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:73196738 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TATACTCATCCGGCAGGTGGCAGCC[C/G]CCAGCCACTTCCGGTAAGTGGATCC
- Phenotype
-
MIM: 606973
- Polymorphism
- C/G, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
COG1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs11544800] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- COG1
- Gene Name
- component of oligomeric golgi complex 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_018714.2 |
583 |
Missense Mutation |
CCC,GCC |
P183A |
NP_061184.1 |
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