Product Details

SNP ID
rs144106169
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:160121226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCTGTCCTTGGATGAGCTGGGCC[A/G]CAAATACCAAGTGGACCTGTCCAAG
Phenotype
MIM: 182340
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATP1A2 PubMed Links

Gene Details

Gene
ATP1A2
Gene Name
ATPase Na+/K+ transporting subunit alpha 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000702.3 284 Missense Mutation CAC,CGC H51R NP_000693.1

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