Product Details

SNP ID
rs200989470
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:99369809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGAGCATTCCTACCACTGTTTGAA[C/T]TGACAGACCATCTGAAAAAAAAAAA
Phenotype
MIM: 605196
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COQ3 PubMed Links

Gene Details

Gene
COQ3
Gene Name
coenzyme Q3, methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017421.3 928 Missense Mutation ATT,GTT I301V NP_059117.3
XM_005267018.4 928 Missense Mutation ATT,GTT I220V XP_005267075.1
XM_006715500.3 928 Missense Mutation ATT,GTT I342V XP_006715563.1
XM_011535898.2 928 Missense Mutation ATT,GTT I261V XP_011534200.1
XM_011535899.1 928 Missense Mutation ATT,GTT I182V XP_011534201.1
XM_017010933.1 928 Missense Mutation ATT,GTT I182V XP_016866422.1

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