Product Details

SNP ID

rs12948507

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82049081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCTCCAGCCACGTTCACCACGTT[A/C]TGTGGGTTCTCAGGACCCCCATGGC

Phenotype

MIM: 601934 MIM: 602578

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

DUS1L PubMed Links

Additional Information

For this assay, SNP(s) [rs74659471] are located under a probe and SNP(s) [rs78793795] 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

DUS1L

Gene Name

dihydrouridine synthase 1 like

There are no transcripts associated with this gene.

Gene

GPS1

Gene Name

G protein pathway suppressor 1

There are no transcripts associated with this gene.

Gene

RFNG

Gene Name

RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002917.1	872	Missense Mutation	CAG,CAT	Q288H	NP_002908.1
XM_011523587.2	872	Missense Mutation	CAG,CAT	Q162H	XP_011521889.1

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