Product Details

SNP ID
rs137934429
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:786241 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACCTCCACACACTCGGTGTCCGT[A/G]GGGATGCGCAGGTAGAAAGCGTGCA
Phenotype
MIM: 613201
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CHTF18 PubMed Links

Gene Details

Gene
CHTF18
Gene Name
chromosome transmission fidelity factor 18
There are no transcripts associated with this gene.

Gene
RPUSD1
Gene Name
RNA pseudouridylate synthase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324086.1 693 Silent Mutation CCC,CCT P219P NP_001311015.1
NM_001324410.1 693 Silent Mutation CCC,CCT P90P NP_001311339.1
NM_001324411.1 693 UTR 3 NP_001311340.1
NM_001324412.1 693 Silent Mutation CCC,CCT P87P NP_001311341.1
NM_001324413.1 693 Silent Mutation CCC,CCT P87P NP_001311342.1
NM_001324414.1 693 Silent Mutation CCC,CCT P87P NP_001311343.1
NM_001324415.1 693 Silent Mutation CCC,CCT P87P NP_001311344.1
NM_058192.2 693 Silent Mutation CCC,CCT P216P NP_478072.1

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