Product Details

SNP ID

rs12077882

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.1:154330417 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGAAGAAGAAAGGAGGGCGCGGG[C/G]TAATGACCGAGAATACAATGAGAAA

Phenotype

MIM: 606578 MIM: 605867

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

AQP10 PubMed Links

Additional Information

For this assay, SNP(s) [rs11430764] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

AQP10

Gene Name

aquaporin 10

There are no transcripts associated with this gene.

Gene

ATP8B2

Gene Name

ATPase phospholipid transporting 8B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005855.1	252	Missense Mutation	GCT,GGT	A18G	NP_001005855.1
NM_020452.3	252	Missense Mutation	GCT,GGT	A51G	NP_065185.1
XM_005245355.2	252	Missense Mutation	GCT,GGT	A37G	XP_005245412.1
XM_005245356.3	252	Missense Mutation	GCT,GGT	A18G	XP_005245413.1
XM_017001871.1	252	Missense Mutation	GCT,GGT	A37G	XP_016857360.1
XM_017001872.1	252	Missense Mutation	GCT,GGT	A18G	XP_016857361.1

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