Product Details

SNP ID
rs201544461
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:77590377 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTATTGGCTCAGCTGGTTAGTGCC[A/C]TGTGCAGCAGGTACTGCACAAGCGC
Phenotype
MIM: 609914
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
AQP11 PubMed Links

Gene Details

Gene
AQP11
Gene Name
aquaporin 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173039.2 724 Missense Mutation ATG,CTG M129L NP_766627.1
XM_005273917.4 724 Missense Mutation ATG,CTG M129L XP_005273974.1
Gene
LOC107987163
Gene Name
uncharacterized LOC107987163
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_017018644.1 724 Intron XP_016874133.1

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