Product Details

SNP ID
rs149978531
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:154330426 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAGGAGGGCGCGGGCTAATGACC[A/G]AGAATACAATGAGAAATTCCAGTAT
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_001005855.1 261 Missense Mutation CAA,CGA Q21R NP_001005855.1
NM_020452.3 261 Missense Mutation CAA,CGA Q54R NP_065185.1
XM_005245355.2 261 Missense Mutation CAA,CGA Q40R XP_005245412.1
XM_005245356.3 261 Missense Mutation CAA,CGA Q21R XP_005245413.1
XM_017001871.1 261 Missense Mutation CAA,CGA Q40R XP_016857360.1
XM_017001872.1 261 Missense Mutation CAA,CGA Q21R XP_016857361.1

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