Product Details
- SNP ID
-
rs111992415
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:20336714 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TATGACACTCCCACTTCGGAATCTG[A/G]TCCCAGAGCAGGTCTACAGGGAGAG
- Phenotype
-
MIM: 602977
MIM: 191845
- Polymorphism
- A/G, 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 |
2183 |
Missense Mutation |
ACC,ATC |
T585I |
NP_001008390.1 |
NM_001278614.1 |
2183 |
Missense Mutation |
ACC,ATC |
T618I |
NP_001265543.1 |
NM_003361.3 |
2183 |
Missense Mutation |
ACC,ATC |
T585I |
NP_003352.2 |
XM_011545934.1 |
2183 |
Missense Mutation |
ACC,ATC |
T660I |
XP_011544236.1 |
XM_011545935.1 |
2183 |
Missense Mutation |
ACC,ATC |
T632I |
XP_011544237.1 |
XM_011545936.1 |
2183 |
Missense Mutation |
ACC,ATC |
T632I |
XP_011544238.1 |
XM_011545937.1 |
2183 |
Missense Mutation |
ACC,ATC |
T632I |
XP_011544239.1 |
XM_011545938.1 |
2183 |
Missense Mutation |
ACC,ATC |
T632I |
XP_011544240.1 |
XM_011545940.1 |
2183 |
Missense Mutation |
ACC,ATC |
T681I |
XP_011544242.1 |
XM_017023641.1 |
2183 |
Missense Mutation |
ACC,ATC |
T613I |
XP_016879130.1 |
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