Product Details

SNP ID
rs201534523
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:786070 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGGCCGGGCCCAGGCAGGAGTGC[A/G]GAGGGGCTGCCTGGCCTGGGGCCCC
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_001324086.1 864 Silent Mutation NP_001311015.1
NM_001324410.1 864 Silent Mutation NP_001311339.1
NM_001324411.1 864 UTR 3 NP_001311340.1
NM_001324412.1 864 Silent Mutation NP_001311341.1
NM_001324413.1 864 Silent Mutation NP_001311342.1
NM_001324414.1 864 Silent Mutation NP_001311343.1
NM_001324415.1 864 Silent Mutation NP_001311344.1
NM_058192.2 864 Silent Mutation NP_478072.1

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