Product Details

SNP ID
rs145872081
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:40717864 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGATATTGAAGGTCCCTGGACAGA[G/T]CCATATACTGATGGCTCCCAGAAAA
Phenotype
MIM: 615567 MIM: 606476
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
COQ8B PubMed Links

Gene Details

Gene
COQ8B
Gene Name
coenzyme Q8B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142555.2 762 Intron NP_001136027.1
NM_024876.3 762 Intron NP_079152.3
Gene
ITPKC
Gene Name
inositol-trisphosphate 3-kinase C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025194.2 762 Missense Mutation GAG,GAT E243D NP_079470.1
XM_017027324.1 762 Intron XP_016882813.1

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