Product Details
- SNP ID
-
rs201993700
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:118957240 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTCCAGCTTTGTGGTGCCTCCGTGC[C/T]GTGGGCGCAGGGAACTGGTGAGTGT
- Phenotype
-
MIM: 611558
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
UPK2
PubMed Links
Gene Details
- Gene
- UPK2
- Gene Name
- uroplakin 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_006760.3 |
294 |
Missense Mutation |
CGT,TGT |
R81C |
NP_006751.1 |
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