Product Details
- SNP ID
-
rs199633513
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:20337370 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GACTAGGTCATAGTTTCCAGCAAAC[C/T]GGAACATCTGGACGGAAAATCGGCC
- Phenotype
-
MIM: 602977
MIM: 191845
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GP2
PubMed Links
Gene Details
- Gene
- GP2
- Gene Name
- glycoprotein 2
There are no transcripts associated with this gene.
- Gene
- UMOD
- Gene Name
- uromodulin
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001008389.2 |
2090 |
Missense Mutation |
CAG,CGG |
Q554R |
NP_001008390.1 |
| NM_001278614.1 |
2090 |
Missense Mutation |
CAG,CGG |
Q587R |
NP_001265543.1 |
| NM_003361.3 |
2090 |
Missense Mutation |
CAG,CGG |
Q554R |
NP_003352.2 |
| XM_011545934.1 |
2090 |
Missense Mutation |
CAG,CGG |
Q629R |
XP_011544236.1 |
| XM_011545935.1 |
2090 |
Missense Mutation |
CAG,CGG |
Q601R |
XP_011544237.1 |
| XM_011545936.1 |
2090 |
Missense Mutation |
CAG,CGG |
Q601R |
XP_011544238.1 |
| XM_011545937.1 |
2090 |
Missense Mutation |
CAG,CGG |
Q601R |
XP_011544239.1 |
| XM_011545938.1 |
2090 |
Missense Mutation |
CAG,CGG |
Q601R |
XP_011544240.1 |
| XM_011545940.1 |
2090 |
Missense Mutation |
CAG,CGG |
Q650R |
XP_011544242.1 |
| XM_017023641.1 |
2090 |
Missense Mutation |
CAG,CGG |
Q582R |
XP_016879130.1 |
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