Product Details

SNP ID
rs146538633
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:789212 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCCTGCATGTGTCTCCCCCAGCC[C/T]CCAGGATCAAACGGCCTAGGCTGCA
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_022092.2 351 Missense Mutation CCC,TCC P97S NP_071375.1
XM_005255470.1 351 UTR 5 XP_005255527.1
XM_005255471.3 351 Missense Mutation CCC,TCC P125S XP_005255528.1
XM_011522572.1 351 Missense Mutation CCC,TCC P98S XP_011520874.1
XM_011522573.1 351 Intron XP_011520875.1
XM_017023532.1 351 Intron XP_016879021.1
XM_017023533.1 351 Missense Mutation CCC,TCC P98S XP_016879022.1
XM_017023534.1 351 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_001324086.1 351 Intron NP_001311015.1
NM_001324410.1 351 Intron NP_001311339.1
NM_001324411.1 351 Intron NP_001311340.1
NM_001324412.1 351 Intron NP_001311341.1
NM_001324413.1 351 Intron NP_001311342.1
NM_001324414.1 351 Intron NP_001311343.1
NM_001324415.1 351 Intron NP_001311344.1
NM_058192.2 351 Intron NP_478072.1

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