Product Details

SNP ID
rs191821030
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:85801259 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGCAAGCGAGCAATTTCCACCTC[C/T]GTGTGTGTACGAGCTCATGGTAAGT
Phenotype
MIM: 123864 MIM: 604886
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COX4I1 PubMed Links

Gene Details

Gene
COX4I1
Gene Name
cytochrome c oxidase subunit 4I1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318786.1 241 Silent Mutation TCC,TCT S18S NP_001305715.1
NM_001318788.1 241 Silent Mutation TCC,TCT S18S NP_001305717.1
NM_001318794.1 241 Silent Mutation TCC,TCT S18S NP_001305723.1
NM_001318797.1 241 UTR 5 NP_001305726.1
NM_001318802.1 241 UTR 5 NP_001305731.1
NM_001861.4 241 Silent Mutation TCC,TCT S18S NP_001852.1
Gene
EMC8
Gene Name
ER membrane protein complex subunit 8
There are no transcripts associated with this gene.

Gene
LOC101928557
Gene Name
uncharacterized LOC101928557
There are no transcripts associated with this gene.

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