Product Details

SNP ID
rs180946215
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73953444 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTTCTTTTTTTAAGGATATGATA[C/T]TCACTTTCATGACAAGAAAATCCTG
Phenotype
MIM: 614647 MIM: 603162
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COQ6 PubMed Links

Gene Details

Gene
COQ6
Gene Name
coenzyme Q6, monooxygenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_182476.2 257 Missense Mutation ACT,ATT T58I NP_872282.1
NM_182480.2 257 Missense Mutation ACT,ATT T33I NP_872286.2
XM_006720156.1 257 UTR 5 XP_006720219.1
XM_011536807.1 257 Missense Mutation ACT,ATT T58I XP_011535109.1
XM_011536808.1 257 Missense Mutation CTC,TTC L3F XP_011535110.1
XM_011536809.2 257 Missense Mutation CTC,TTC L3F XP_011535111.1
XM_011536810.2 257 Missense Mutation ACT,ATT T58I XP_011535112.1
XM_017021351.1 257 UTR 5 XP_016876840.1
XM_017021352.1 257 UTR 5 XP_016876841.1
Gene
ENTPD5
Gene Name
ectonucleoside triphosphate diphosphohydrolase 5
There are no transcripts associated with this gene.

Gene
FAM161B
Gene Name
family with sequence similarity 161 member B
There are no transcripts associated with this gene.

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