Product Details
- SNP ID
-
rs143954731
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:118957270 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCGCAGGGAACTGGTGAGTGTGGTG[A/G]ACAGTGGTGCTGGCTTCACAGTCAC
- Phenotype
-
MIM: 611558
- Polymorphism
- A/G, 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 |
324 |
Missense Mutation |
AAC,GAC |
N91D |
NP_006751.1 |
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