Product Details

SNP ID

rs144100968

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82052427 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGGCCGGGGACTTCAGCCTGAGC[A/G]CCAGCCTGTCGGCCTGTACGCTGCT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321089.1	240	Missense Mutation	ACC,GCC	T69A	NP_001308018.1
NM_001321090.1	240	Missense Mutation	ACC,GCC	T69A	NP_001308019.1
NM_001321091.1	240	Missense Mutation	ACC,GCC	T69A	NP_001308020.1
NM_001321092.1	240	Intron			NP_001308021.1
NM_001321093.1	240	UTR 5			NP_001308022.1
NM_004127.5	240	Intron			NP_004118.3
NM_212492.2	240	Missense Mutation	ACC,GCC	T41A	NP_997657.1
XM_005256350.1	240	Missense Mutation	ACC,GCC	T69A	XP_005256407.1
XM_005256353.1	240	Missense Mutation	ACC,GCC	T69A	XP_005256410.1
XM_005256359.1	240	Intron			XP_005256416.1
XM_005256360.3	240	Intron			XP_005256417.1
XM_011523569.1	240	UTR 5			XP_011521871.1
XM_011523570.1	240	UTR 5			XP_011521872.1
XM_017024524.1	240	UTR 5			XP_016880013.1
XM_017024525.1	240	Missense Mutation	ACC,GCC	T69A	XP_016880014.1
XM_017024526.1	240	UTR 5			XP_016880015.1
XM_017024527.1	240	Intron			XP_016880016.1
XM_017024528.1	240	Intron			XP_016880017.1
XM_017024529.1	240	Intron			XP_016880018.1
XM_017024530.1	240	Intron			XP_016880019.1
XM_017024531.1	240	UTR 5			XP_016880020.1
XM_017024532.1	240	Intron			XP_016880021.1
XM_017024533.1	240	Intron			XP_016880022.1
XM_017024534.1	240	UTR 5			XP_016880023.1
XM_017024535.1	240	UTR 5			XP_016880024.1

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	240	Intron			NP_002908.1
XM_011523587.2	240	Intron			XP_011521889.1

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