Product Details

SNP ID
rs200836965
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:154330453 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATACAATGAGAAATTCCAGTATG[C/T]GGTAAGCGACTCTAGACCACCTGTT
Phenotype
MIM: 606578 MIM: 605867
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AQP10 PubMed Links

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_001005855.1 288 Missense Mutation GCG,GTG A30V NP_001005855.1
NM_020452.3 288 Missense Mutation GCG,GTG A63V NP_065185.1
XM_005245355.2 288 Missense Mutation GCG,GTG A49V XP_005245412.1
XM_005245356.3 288 Missense Mutation GCG,GTG A30V XP_005245413.1
XM_017001871.1 288 Missense Mutation GCG,GTG A49V XP_016857360.1
XM_017001872.1 288 Missense Mutation GCG,GTG A30V XP_016857361.1

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