Product Details

SNP ID

rs143366138

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:33442093 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCCAGCTTCACATTCTCTTCCT[C/T]GTTGGAGGGTGGGGGCTGCTCCAGG

Phenotype

MIM: 600170

Polymorphism

C/T, Transition 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	932	Missense Mutation	CAA,CGA	Q204R	NP_001305073.1
NM_004925.4	932	Missense Mutation	AAG,GAG	K277E	NP_004916.1

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