Product Details

SNP ID
rs139146000
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:82053918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCGGCCTGATGCGCATCGAACG[A/G]CTGCAGTTCATTGCTGATCACTGCC
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_001321089.1 416 Silent Mutation CGA,CGG R127R NP_001308018.1
NM_001321090.1 416 Silent Mutation CGA,CGG R127R NP_001308019.1
NM_001321091.1 416 Silent Mutation CGA,CGG R127R NP_001308020.1
NM_001321092.1 416 Silent Mutation CGA,CGG R59R NP_001308021.1
NM_001321093.1 416 Silent Mutation CGA,CGG R43R NP_001308022.1
NM_004127.5 416 Silent Mutation CGA,CGG R59R NP_004118.3
NM_212492.2 416 Silent Mutation CGA,CGG R99R NP_997657.1
XM_005256350.1 416 Silent Mutation CGA,CGG R127R XP_005256407.1
XM_005256353.1 416 Silent Mutation CGA,CGG R127R XP_005256410.1
XM_005256359.1 416 Silent Mutation CGA,CGG R59R XP_005256416.1
XM_005256360.3 416 Silent Mutation CGA,CGG R59R XP_005256417.1
XM_011523569.1 416 Silent Mutation CGA,CGG R43R XP_011521871.1
XM_011523570.1 416 Silent Mutation CGA,CGG R43R XP_011521872.1
XM_017024524.1 416 Silent Mutation CGA,CGG R43R XP_016880013.1
XM_017024525.1 416 Silent Mutation CGA,CGG R127R XP_016880014.1
XM_017024526.1 416 Silent Mutation CGA,CGG R43R XP_016880015.1
XM_017024527.1 416 Silent Mutation CGA,CGG R59R XP_016880016.1
XM_017024528.1 416 Silent Mutation CGA,CGG R43R XP_016880017.1
XM_017024529.1 416 Silent Mutation CGA,CGG R43R XP_016880018.1
XM_017024530.1 416 Silent Mutation CGA,CGG R43R XP_016880019.1
XM_017024531.1 416 Silent Mutation CGA,CGG R43R XP_016880020.1
XM_017024532.1 416 Silent Mutation CGA,CGG R59R XP_016880021.1
XM_017024533.1 416 Silent Mutation CGA,CGG R59R XP_016880022.1
XM_017024534.1 416 Silent Mutation CGA,CGG R43R XP_016880023.1
XM_017024535.1 416 Silent Mutation CGA,CGG R43R XP_016880024.1
Gene
RFNG
Gene Name
RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
There are no transcripts associated with this gene.

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