Product Details

SNP ID
rs200971904
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:154331087 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTCCCTGTCCTGGTTCACCACC[A/G]TTGTGCCTTTGGTTCTTGTCCTCAC
Phenotype
MIM: 606578 MIM: 605867
Polymorphism
A/G, 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_001005855.1 443 Missense Mutation ATT,GTT I82V NP_001005855.1
NM_020452.3 443 Missense Mutation ATT,GTT I115V NP_065185.1
XM_005245355.2 443 Missense Mutation ATT,GTT I101V XP_005245412.1
XM_005245356.3 443 Missense Mutation ATT,GTT I82V XP_005245413.1
XM_017001871.1 443 Missense Mutation ATT,GTT I101V XP_016857360.1
XM_017001872.1 443 Missense Mutation ATT,GTT I82V XP_016857361.1

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