Product Details

SNP ID

rs104894336

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49950894 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCGCAGAGTTCCTGGCCACACTC[C/G]TCTTCGTCTTCTTTGGCCTCGGCTC

Phenotype

MIM: 107777

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AQP2 PubMed Links

Gene Details

Gene

AQP2

Gene Name

aquaporin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000486.5	154	Missense Mutation	CTC,GTC	L22V	NP_000477.1

Gene

LOC101927318

Gene Name

uncharacterized LOC101927318

There are no transcripts associated with this gene.

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