Product Details

SNP ID
rs147823363
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:120366598 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGCAGAAGAAGAGGCTCGGGTGA[C/T]GGTGGTGCCCAAATCGGAGGAGGAG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP1B4 PubMed Links

Gene Details

Gene
ATP1B4
Gene Name
ATPase Na+/K+ transporting family member beta 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142447.2 221 Missense Mutation ACG,ATG T46M NP_001135919.1
NM_012069.4 221 Missense Mutation ACG,ATG T46M NP_036201.1
XM_017029381.1 221 Missense Mutation ACG,ATG T46M XP_016884870.1

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