Product Details

SNP ID
rs139300345
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:33442046 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGGAGATGGCCCCTGCCCACTCA[C/G]ATCTGCTCCTTGTGCTTCACATGGG
Phenotype
MIM: 600170
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
AQP3 PubMed Links

Gene Details

Gene
AQP3
Gene Name
aquaporin 3 (Gill blood group)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318144.1 979 Missense Mutation CTG,GTG L220V NP_001305073.1
NM_004925.4 979 Silent Mutation ATC,ATG I292M NP_004916.1

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