Product Details

SNP ID
rs200469009
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49963534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGGCCAGGCCATGGTGGTGGAG[A/C]TGATTCTGACCTTCCAGCTGGCACT
Phenotype
MIM: 107777 MIM: 600442 MIM: 601383
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
AQP2 PubMed Links

Gene Details

Gene
AQP2
Gene Name
aquaporin 2
There are no transcripts associated with this gene.

Gene
AQP5
Gene Name
aquaporin 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001651.3 928 Missense Mutation ATG,CTG M136L NP_001642.1
XM_005268838.2 928 Missense Mutation ATG,CTG M136L XP_005268895.1
Gene
AQP6
Gene Name
aquaporin 6
There are no transcripts associated with this gene.

Gene
LOC101927318
Gene Name
uncharacterized LOC101927318
There are no transcripts associated with this gene.

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