Product Details

SNP ID
rs113608744
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:789641 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGCCCCCCATCTTGGAGGACTAC[A/G]TCCACGTGACATCCACGGAGGGCGT
Phenotype
MIM: 613201 MIM: 607298
Polymorphism
A/G, 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_022092.2 594 Missense Mutation ATC,GTC I178V NP_071375.1
XM_005255470.1 594 Missense Mutation ATC,GTC I62V XP_005255527.1
XM_005255471.3 594 Missense Mutation ATC,GTC I206V XP_005255528.1
XM_011522572.1 594 Missense Mutation ATC,GTC I179V XP_011520874.1
XM_011522573.1 594 Intron XP_011520875.1
XM_017023532.1 594 Missense Mutation ATC,GTC I157V XP_016879021.1
XM_017023533.1 594 Missense Mutation ATC,GTC I179V XP_016879022.1
XM_017023534.1 594 Missense Mutation ATC,GTC I62V 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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