Product Details

SNP ID
rs114985156
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:789666 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCACGTGACATCCACGGAGGGCG[G/T]CCGGGCTTATCTGGTGCTGCGTGCT
Phenotype
MIM: 613201 MIM: 607298
Polymorphism
G/T, Transversion 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_022092.2 619 Missense Mutation GGC,GTC G186V NP_071375.1
XM_005255470.1 619 Missense Mutation GGC,GTC G70V XP_005255527.1
XM_005255471.3 619 Missense Mutation GGC,GTC G214V XP_005255528.1
XM_011522572.1 619 Missense Mutation GGC,GTC G187V XP_011520874.1
XM_011522573.1 619 Intron XP_011520875.1
XM_017023532.1 619 Missense Mutation GGC,GTC G165V XP_016879021.1
XM_017023533.1 619 Missense Mutation GGC,GTC G187V XP_016879022.1
XM_017023534.1 619 Missense Mutation GGC,GTC G70V 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
There are no transcripts associated with this gene.

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