Product Details

SNP ID
rs78620657
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:785303 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCACACTGAGCTCAGAATCCGGGC[A/G]GAGAGGGAACCACTGGTACAGTGAG
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 1631 UTR 3 NP_001311015.1
NM_001324410.1 1631 UTR 3 NP_001311339.1
NM_001324411.1 1631 UTR 3 NP_001311340.1
NM_001324412.1 1631 UTR 3 NP_001311341.1
NM_001324413.1 1631 UTR 3 NP_001311342.1
NM_001324414.1 1631 UTR 3 NP_001311343.1
NM_001324415.1 1631 UTR 3 NP_001311344.1
NM_058192.2 1631 UTR 3 NP_478072.1

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