Product Details
- SNP ID
-
rs1991
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:106094084 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCAGGCTTTGGTTTGGGGATGTAC[C/T]GATTATTTGCCTGGTACTCGAGTTC
- Phenotype
-
MIM: 609749
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
UXS1
PubMed Links
Gene Details
- Gene
- UXS1
- Gene Name
- UDP-glucuronate decarboxylase 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001253875.1 |
1081 |
Missense Mutation |
CAG,CGG |
Q407R |
NP_001240804.1 |
NM_001253876.1 |
1081 |
Missense Mutation |
CAG,CGG |
Q234R |
NP_001240805.1 |
NM_025076.4 |
1081 |
Missense Mutation |
CAG,CGG |
Q402R |
NP_079352.2 |
XM_006712775.3 |
1081 |
UTR 3 |
|
|
XP_006712838.1 |
XM_011511902.2 |
1081 |
Missense Mutation |
CAG,CGG |
Q401R |
XP_011510204.2 |
XM_011511903.2 |
1081 |
Missense Mutation |
CAG,CGG |
Q396R |
XP_011510205.2 |
XM_011511904.2 |
1081 |
Missense Mutation |
CAG,CGG |
Q347R |
XP_011510206.1 |
XM_017005008.1 |
1081 |
Missense Mutation |
CAG,CGG |
Q353R |
XP_016860497.1 |
XM_017005009.1 |
1081 |
Missense Mutation |
CAG,CGG |
Q348R |
XP_016860498.1 |
XM_017005010.1 |
1081 |
UTR 3 |
|
|
XP_016860499.1 |
XM_017005011.1 |
1081 |
Missense Mutation |
CAG,CGG |
Q337R |
XP_016860500.1 |
XM_017005012.1 |
1081 |
Missense Mutation |
CAG,CGG |
Q337R |
XP_016860501.1 |
XM_017005013.1 |
1081 |
Missense Mutation |
CAG,CGG |
Q294R |
XP_016860502.1 |
XM_017005014.1 |
1081 |
Missense Mutation |
CAG,CGG |
Q234R |
XP_016860503.1 |
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