Product Details

SNP ID
rs200978022
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:788705 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGTATGGAGGACTACGAGCAGGA[A/G]CTGTGCGGCGTCGAGGATGATTTCC
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 80 Silent Mutation GAA,GAG E7E NP_071375.1
XM_005255470.1 80 UTR 5 XP_005255527.1
XM_005255471.3 80 Silent Mutation GAA,GAG E7E XP_005255528.1
XM_011522572.1 80 Silent Mutation GAA,GAG E7E XP_011520874.1
XM_011522573.1 80 Intron XP_011520875.1
XM_017023532.1 80 UTR 5 XP_016879021.1
XM_017023533.1 80 Silent Mutation GAA,GAG E7E XP_016879022.1
XM_017023534.1 80 UTR 5 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 80 Intron NP_001311015.1
NM_001324410.1 80 Intron NP_001311339.1
NM_001324411.1 80 Intron NP_001311340.1
NM_001324412.1 80 Intron NP_001311341.1
NM_001324413.1 80 Intron NP_001311342.1
NM_001324414.1 80 Intron NP_001311343.1
NM_001324415.1 80 Intron NP_001311344.1
NM_058192.2 80 Intron NP_478072.1

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