Product Details

SNP ID

rs201927760

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:786194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCTCCAGCAGGCATCCAGGGAG[A/G]GCAGGAAGGGGTCAGGCGTGCAGAC

Phenotype

MIM: 613201

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CHTF18 PubMed Links

Additional Information

For this assay, SNP(s) [rs3751672] are located under a primer 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

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	740	Missense Mutation	CCC,CTC	P235L	NP_001311015.1
NM_001324410.1	740	Missense Mutation	CCC,CTC	P106L	NP_001311339.1
NM_001324411.1	740	UTR 3			NP_001311340.1
NM_001324412.1	740	Missense Mutation	CCC,CTC	P103L	NP_001311341.1
NM_001324413.1	740	Missense Mutation	CCC,CTC	P103L	NP_001311342.1
NM_001324414.1	740	Missense Mutation	CCC,CTC	P103L	NP_001311343.1
NM_001324415.1	740	Missense Mutation	CCC,CTC	P103L	NP_001311344.1
NM_058192.2	740	Missense Mutation	CCC,CTC	P232L	NP_478072.1

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