Product Details

SNP ID
rs117479929
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:789184 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGGCGCGAGGCTGAGGAGGCCTC[C/T]GGTTCCCTGCATGTGTCTCCCCCAG
Phenotype
MIM: 613201 MIM: 607298
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHTF18 PubMed Links

Gene Details

Gene
CHTF18
Gene Name
chromosome transmission fidelity factor 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022092.2 406 Intron NP_071375.1
XM_005255470.1 406 Intron XP_005255527.1
XM_005255471.3 406 Silent Mutation TCC,TCT S115S XP_005255528.1
XM_011522572.1 406 Intron XP_011520874.1
XM_011522573.1 406 Intron XP_011520875.1
XM_017023532.1 406 Intron XP_016879021.1
XM_017023533.1 406 Intron XP_016879022.1
XM_017023534.1 406 Intron XP_016879023.1
Gene
GNG13
Gene Name
G protein subunit gamma 13
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_001324086.1 406 Intron NP_001311015.1
NM_001324410.1 406 Intron NP_001311339.1
NM_001324411.1 406 Intron NP_001311340.1
NM_001324412.1 406 Intron NP_001311341.1
NM_001324413.1 406 Intron NP_001311342.1
NM_001324414.1 406 Intron NP_001311343.1
NM_001324415.1 406 Intron NP_001311344.1
NM_058192.2 406 Intron NP_478072.1

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