Product Details

SNP ID

rs147268428

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:786148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCGTAAGGCCTGCACGAGCTGGTC[C/T]AGCGACTGCAGCAGTGTGTGGGGGC

Phenotype

MIM: 613201

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CHTF18 PubMed Links

Additional Information

For this assay, SNP(s) [rs3751672] 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

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	786	Silent Mutation	CTA,CTG	L250L	NP_001311015.1
NM_001324410.1	786	Silent Mutation	CTA,CTG	L121L	NP_001311339.1
NM_001324411.1	786	UTR 3			NP_001311340.1
NM_001324412.1	786	Silent Mutation	CTA,CTG	L118L	NP_001311341.1
NM_001324413.1	786	Silent Mutation	CTA,CTG	L118L	NP_001311342.1
NM_001324414.1	786	Silent Mutation	CTA,CTG	L118L	NP_001311343.1
NM_001324415.1	786	Silent Mutation	CTA,CTG	L118L	NP_001311344.1
NM_058192.2	786	Silent Mutation	CTA,CTG	L247L	NP_478072.1

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