Product Details

SNP ID
rs182680057
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:68065811 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTTGTTTCTTGGTGGGATACTTC[C/T]GGATGTTTGCTCTGAAAAAAGGGTA
Phenotype
MIM: 118491
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHKA PubMed Links

Gene Details

Gene
CHKA
Gene Name
choline kinase alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001277.2 1198 Missense Mutation CAG,CGG Q367R NP_001268.2
NM_212469.1 1198 Missense Mutation CAG,CGG Q349R NP_997634.1
XM_017017147.1 1198 Missense Mutation CAG,CGG Q329R XP_016872636.1
XM_017017148.1 1198 Missense Mutation CAG,CGG Q191R XP_016872637.1

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