Product Details

SNP ID
rs4984925
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:789996 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTCTCCTAAAGCTGCCCCCAATT[C/T]CCCTTTGCAGCTGACCCATCTGGAT
Phenotype
MIM: 613201 MIM: 607298
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CHTF18 PubMed Links
Additional Information
For this assay, SNP(s) [rs112891252] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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 Intron NP_071375.1
XM_005255470.1 Intron XP_005255527.1
XM_005255471.3 Intron XP_005255528.1
XM_011522572.1 Intron XP_011520874.1
XM_011522573.1 Intron XP_011520875.1
XM_017023532.1 Intron XP_016879021.1
XM_017023533.1 Intron XP_016879022.1
XM_017023534.1 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
There are no transcripts associated with this gene.

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