Product Details

SNP ID

rs200560569

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:25217388 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGACGGACACTGGGCTGCTGCAGC[C/T]GGCCCTGGCCCACGGGCTGGCTTTG

Phenotype

MIM: 603750

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AQP8 PubMed Links

Gene Details

Gene

AQP8

Gene Name

aquaporin 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001169.2	285	Missense Mutation	CCG,CTG	P68L	NP_001160.2
XM_011545822.2	285	Missense Mutation	CCG,CTG	P69L	XP_011544124.1
XM_011545823.2	285	Missense Mutation	CCG,CTG	P69L	XP_011544125.1

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