Product Details

SNP ID

rs148928654

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:154324310 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTAATGGCTGGTGGTGGGTGCCT[C/G]TGGTGGCCCCTCTGGTGGGGGCCAC

Phenotype

MIM: 606578 MIM: 605867

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AQP10 PubMed Links

Gene Details

Gene

AQP10

Gene Name

aquaporin 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080429.2	776	Missense Mutation	CTG,GTG	L246V	NP_536354.2
XM_011510104.2	776	Missense Mutation	CTG,GTG	L247V	XP_011508406.1

Gene

ATP8B2

Gene Name

ATPase phospholipid transporting 8B2

There are no transcripts associated with this gene.

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