Product Details

SNP ID
rs111955912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:786050 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGTTGGGGGTGGAGGAGGCCGG[C/T]CGGGCCCAGGCAGGAGTGCGGAGGG
Phenotype
MIM: 613201
Polymorphism
C/T, 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_001324086.1 884 Missense Mutation GAC,GGC D283G NP_001311015.1
NM_001324410.1 884 Missense Mutation GAC,GGC D154G NP_001311339.1
NM_001324411.1 884 UTR 3 NP_001311340.1
NM_001324412.1 884 Missense Mutation GAC,GGC D151G NP_001311341.1
NM_001324413.1 884 Missense Mutation GAC,GGC D151G NP_001311342.1
NM_001324414.1 884 Missense Mutation GAC,GGC D151G NP_001311343.1
NM_001324415.1 884 Missense Mutation GAC,GGC D151G NP_001311344.1
NM_058192.2 884 Missense Mutation GAC,GGC D280G NP_478072.1

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