Product Details

SNP ID

rs146610605

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:25217047 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGATGTTTGTGCCATCTGATCCTGA[C/T]GTCTGGAGAGGTGAGCCCTCTGTCG

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	84	Missense Mutation	ACG,ATG	T1M	NP_001160.2
XM_011545822.2	84	Missense Mutation	ACG,ATG	T1M	XP_011544124.1
XM_011545823.2	84	Missense Mutation	ACG,ATG	T1M	XP_011544125.1

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