Product Details

SNP ID
rs144883115
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144383199 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCACGGGAGAAGAGGAGGATGCGG[C/T]TCGTGGTGGATGGCATGGGGCGCTT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ADCK5 PubMed Links

Gene Details

Gene
ADCK5
Gene Name
aarF domain containing kinase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_174922.4 316 Missense Mutation CTC,TTC L79F NP_777582.4
XM_006716527.2 316 UTR 5 XP_006716590.1
XM_011516907.2 316 Missense Mutation CTC,TTC L153F XP_011515209.1
XM_011516909.1 316 Missense Mutation CTC,TTC L12F XP_011515211.1
XM_011516910.1 316 UTR 5 XP_011515212.1
XM_017013174.1 316 Missense Mutation CTC,TTC L12F XP_016868663.1

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