Product Details

SNP ID

rs181397131

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:789225 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCCCCAGCCCCCAGGATCAAAC[A/G]GCCTAGGCTGCAGGTGGTCAAGAGG

Phenotype

MIM: 613201 MIM: 607298

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CHTF18 PubMed Links

Additional Information

For this assay, SNP(s) [rs77682584] 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022092.2	364	Missense Mutation	CAG,CGG	Q101R	NP_071375.1
XM_005255470.1	364	UTR 5			XP_005255527.1
XM_005255471.3	364	Missense Mutation	CAG,CGG	Q129R	XP_005255528.1
XM_011522572.1	364	Missense Mutation	CAG,CGG	Q102R	XP_011520874.1
XM_011522573.1	364	Intron			XP_011520875.1
XM_017023532.1	364	Missense Mutation	CAG,CGG	Q80R	XP_016879021.1
XM_017023533.1	364	Missense Mutation	CAG,CGG	Q102R	XP_016879022.1
XM_017023534.1	364	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	364	Intron			NP_001311015.1
NM_001324410.1	364	Intron			NP_001311339.1
NM_001324411.1	364	Intron			NP_001311340.1
NM_001324412.1	364	Intron			NP_001311341.1
NM_001324413.1	364	Intron			NP_001311342.1
NM_001324414.1	364	Intron			NP_001311343.1
NM_001324415.1	364	Intron			NP_001311344.1
NM_058192.2	364	Intron			NP_478072.1

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