Product Details
- SNP ID
-
rs148147539
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:82054014 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGAGAACCTTTAACGTGGACATGTA[C/T]GAGGAGATCCACCGCAAGCTCTCAG
- Phenotype
-
MIM: 601934
MIM: 602578
- Polymorphism
- C/T, 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 |
512 |
Silent Mutation |
TAC,TAT |
Y159Y |
NP_001308018.1 |
| NM_001321090.1 |
512 |
Silent Mutation |
TAC,TAT |
Y159Y |
NP_001308019.1 |
| NM_001321091.1 |
512 |
Silent Mutation |
TAC,TAT |
Y159Y |
NP_001308020.1 |
| NM_001321092.1 |
512 |
Silent Mutation |
TAC,TAT |
Y91Y |
NP_001308021.1 |
| NM_001321093.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
NP_001308022.1 |
| NM_004127.5 |
512 |
Silent Mutation |
TAC,TAT |
Y91Y |
NP_004118.3 |
| NM_212492.2 |
512 |
Silent Mutation |
TAC,TAT |
Y131Y |
NP_997657.1 |
| XM_005256350.1 |
512 |
Silent Mutation |
TAC,TAT |
Y159Y |
XP_005256407.1 |
| XM_005256353.1 |
512 |
Silent Mutation |
TAC,TAT |
Y159Y |
XP_005256410.1 |
| XM_005256359.1 |
512 |
Silent Mutation |
TAC,TAT |
Y91Y |
XP_005256416.1 |
| XM_005256360.3 |
512 |
Silent Mutation |
TAC,TAT |
Y91Y |
XP_005256417.1 |
| XM_011523569.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
XP_011521871.1 |
| XM_011523570.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
XP_011521872.1 |
| XM_017024524.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
XP_016880013.1 |
| XM_017024525.1 |
512 |
Silent Mutation |
TAC,TAT |
Y159Y |
XP_016880014.1 |
| XM_017024526.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
XP_016880015.1 |
| XM_017024527.1 |
512 |
Silent Mutation |
TAC,TAT |
Y91Y |
XP_016880016.1 |
| XM_017024528.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
XP_016880017.1 |
| XM_017024529.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
XP_016880018.1 |
| XM_017024530.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
XP_016880019.1 |
| XM_017024531.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
XP_016880020.1 |
| XM_017024532.1 |
512 |
Silent Mutation |
TAC,TAT |
Y91Y |
XP_016880021.1 |
| XM_017024533.1 |
512 |
Silent Mutation |
TAC,TAT |
Y91Y |
XP_016880022.1 |
| XM_017024534.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
XP_016880023.1 |
| XM_017024535.1 |
512 |
Silent Mutation |
TAC,TAT |
Y75Y |
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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