Product Details
- SNP ID
-
rs200724517
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:49973312 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTTCTTTGGCGTGGGCTCAGTCATG[C/G]GCTGGCCCACAGCACTTCCCTCCGT
- Phenotype
-
MIM: 600442
MIM: 601383
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
AQP5
PubMed Links
Gene Details
- Gene
- AQP5
- Gene Name
- aquaporin 5
There are no transcripts associated with this gene.
- Gene
- AQP6
- Gene Name
- aquaporin 6
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001652.3 |
476 |
Missense Mutation |
CGC,GGC |
R47G |
NP_001643.2 |
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