Product Details

SNP ID
rs80313978
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:26854876 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAGAACATTCTAGTGACAAAAG[A/G]CAAAGCAGGACAGAAAAACCAATTA
Phenotype
MIM: 600308
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AQP4 PubMed Links

Gene Details

Gene
AQP4
Gene Name
aquaporin 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317384.1 2504 UTR 3 NP_001304313.1
NM_001317387.1 2504 UTR 3 NP_001304316.1
NM_001650.5 2504 UTR 3 NP_001641.1
NM_004028.4 2504 UTR 3 NP_004019.1
XM_011525942.2 2504 UTR 3 XP_011524244.1

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