Product Details

SNP ID
rs55658005
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:786199 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGCAGGCATCCAGGGAGGGCAG[A/G]AAGGGGTCAGGCGTGCAGACCTCCA
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_001324086.1 735 Silent Mutation TTC,TTT F233F NP_001311015.1
NM_001324410.1 735 Silent Mutation TTC,TTT F104F NP_001311339.1
NM_001324411.1 735 UTR 3 NP_001311340.1
NM_001324412.1 735 Silent Mutation TTC,TTT F101F NP_001311341.1
NM_001324413.1 735 Silent Mutation TTC,TTT F101F NP_001311342.1
NM_001324414.1 735 Silent Mutation TTC,TTT F101F NP_001311343.1
NM_001324415.1 735 Silent Mutation TTC,TTT F101F NP_001311344.1
NM_058192.2 735 Silent Mutation TTC,TTT F230F NP_478072.1

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