Product Details

SNP ID
rs199602927
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:786017 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGGGCCCCGCTGTGCCTCAGTC[A/T]CAGGGGGCTTGGTTGGGGGTGGAGG
Phenotype
MIM: 613201
Polymorphism
A/T, Transversion 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_001324086.1 917 Missense Mutation GAG,GTG E294V NP_001311015.1
NM_001324410.1 917 Missense Mutation GAG,GTG E165V NP_001311339.1
NM_001324411.1 917 UTR 3 NP_001311340.1
NM_001324412.1 917 Missense Mutation GAG,GTG E162V NP_001311341.1
NM_001324413.1 917 Missense Mutation GAG,GTG E162V NP_001311342.1
NM_001324414.1 917 Missense Mutation GAG,GTG E162V NP_001311343.1
NM_001324415.1 917 Missense Mutation GAG,GTG E162V NP_001311344.1
NM_058192.2 917 Missense Mutation GAG,GTG E291V NP_478072.1

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