Product Details

SNP ID
rs200620102
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:785969 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCTCTCAGCTGTCCGGTTCCAGC[A/G]TCCACTCCGACAGCCACTGCAGGCA
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_001324086.1 965 Missense Mutation ACG,ATG T310M NP_001311015.1
NM_001324410.1 965 Missense Mutation ACG,ATG T181M NP_001311339.1
NM_001324411.1 965 UTR 3 NP_001311340.1
NM_001324412.1 965 Missense Mutation ACG,ATG T178M NP_001311341.1
NM_001324413.1 965 Missense Mutation ACG,ATG T178M NP_001311342.1
NM_001324414.1 965 Missense Mutation ACG,ATG T178M NP_001311343.1
NM_001324415.1 965 Missense Mutation ACG,ATG T178M NP_001311344.1
NM_058192.2 965 Missense Mutation ACG,ATG T307M NP_478072.1

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