Product Details

SNP ID
rs114850047
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:125629423 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCATGGTATTGGAATAACTCACAG[A/G]GATATTAAACCAGAAAATCTTCTGT
Phenotype
MIM: 603078 MIM: 601134
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHEK1 PubMed Links

Gene Details

Gene
CHEK1
Gene Name
checkpoint kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114121.2 471 Silent Mutation AGA,AGG R129R NP_001107593.1
NM_001114122.2 471 Silent Mutation AGA,AGG R129R NP_001107594.1
NM_001244846.1 471 Silent Mutation AGA,AGG R129R NP_001231775.1
NM_001274.5 471 Silent Mutation AGA,AGG R129R NP_001265.2
XM_011542560.2 471 Silent Mutation AGA,AGG R145R XP_011540862.1
XM_011542561.2 471 Silent Mutation AGA,AGG R145R XP_011540863.1
XM_011542562.2 471 Silent Mutation AGA,AGG R62R XP_011540864.1
XM_011542563.2 471 Silent Mutation AGA,AGG R35R XP_011540865.1
XM_017017146.1 471 Silent Mutation AGA,AGG R129R XP_016872635.1
Gene
STT3A
Gene Name
STT3A, catalytic subunit of the oligosaccharyltransferase complex
There are no transcripts associated with this gene.

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