Product Details

SNP ID: rs147630546
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:49973273 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCGCTGTTTGCAGAGTTCCTGGCC[A/T]CGGGGCTGTATGTGTTCTTTGGCGT
Phenotype: MIM: 600442 MIM: 601383
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: AQP5 PubMed Links

Gene Details

There are no transcripts associated with this gene.

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001652.3	437	Missense Mutation	ACG,TCG	T34S	NP_001643.2