Product Details

SNP ID
rs146843654
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:120504904 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTAACAATGCCAACCTGGATATG[A/G]GGGGATTGTTCACTTGGCTAAATTC
Phenotype
MIM: 616359 MIM: 601562 MIM: 616207
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
COQ5 PubMed Links

Gene Details

Gene
COQ5
Gene Name
coenzyme Q5, methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032314.3 781 Missense Mutation CCC,CTC P254L NP_115690.3
XM_006719639.2 781 Missense Mutation CCC,CTC P173L XP_006719702.1
Gene
DYNLL1
Gene Name
dynein light chain LC8-type 1
There are no transcripts associated with this gene.

Gene
NRAV
Gene Name
negative regulator of antiviral response (non-protein coding)
There are no transcripts associated with this gene.

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