Product Details

SNP ID
rs114305778
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:120503804 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAATTAAAGTTTGAAGCCAGAAT[C/G]AATGGCCACAATGCCTGATGTTAGA
Phenotype
MIM: 616359 MIM: 601562 MIM: 616207
Polymorphism
C/G, Transversion 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_032314.3 984 Missense Mutation CAT,GAT H322D NP_115690.3
XM_006719639.2 984 Missense Mutation CAT,GAT H241D 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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