Product Details

SNP ID

rs138202141

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82049032 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCCATGCCACTACCTACTCACC[A/G]TGTGGGGTCTTGATGCAGGCTGAAG

Phenotype

MIM: 601934 MIM: 602578

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DUS1L PubMed Links

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	921	Missense Mutation	CGG,TGG	R305W	NP_002908.1
XM_011523587.2	921	Missense Mutation	CGG,TGG	R179W	XP_011521889.1

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