Product Details

SNP ID

rs142676062

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49962088 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGAGTTCTTGGCCACCCTCATCT[C/T]CGTCTTCTTTGGCCTGGGCTCGGCC

Phenotype

MIM: 107777 MIM: 600442

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AQP2 PubMed Links

Gene Details

Gene

AQP2

Gene Name

aquaporin 2

There are no transcripts associated with this gene.

Gene

AQP5

Gene Name

aquaporin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001651.3	593	Missense Mutation	TCC,TTC	S24F	NP_001642.1
XM_005268838.2	593	Missense Mutation	TCC,TTC	S24F	XP_005268895.1

Gene

LOC101927318

Gene Name

uncharacterized LOC101927318

There are no transcripts associated with this gene.

View Full Product Details