Product Details
- SNP ID
-
rs200831987
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:65970297 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCAGGCTCACCCCCTTGTCTGCTGC[A/G]TAGTTAGAGTTGCTCACAAAGGTCA
- Phenotype
-
MIM: 611499
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GUSB
PubMed Links
Gene Details
- Gene
- GUSB
- Gene Name
- glucuronidase beta
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000181.3 |
1336 |
Silent Mutation |
TAC,TAT |
Y487Y |
NP_000172.2 |
| NM_001284290.1 |
1336 |
Silent Mutation |
TAC,TAT |
Y341Y |
NP_001271219.1 |
| NM_001293104.1 |
1336 |
Silent Mutation |
TAC,TAT |
Y297Y |
NP_001280033.1 |
| NM_001293105.1 |
1336 |
Silent Mutation |
TAC,TAT |
Y268Y |
NP_001280034.1 |
| XM_005250297.3 |
1336 |
Silent Mutation |
TAC,TAT |
Y436Y |
XP_005250354.1 |
| XM_011516113.1 |
1336 |
Silent Mutation |
TAC,TAT |
Y320Y |
XP_011514415.1 |
| XM_011516114.1 |
1336 |
Silent Mutation |
TAC,TAT |
Y263Y |
XP_011514416.1 |
| XM_017012091.1 |
1336 |
Silent Mutation |
TAC,TAT |
Y269Y |
XP_016867580.1 |
| XM_017012092.1 |
1336 |
Silent Mutation |
TAC,TAT |
Y246Y |
XP_016867581.1 |
| XM_017012093.1 |
1336 |
Silent Mutation |
TAC,TAT |
Y212Y |
XP_016867582.1 |
View Full Product Details