Product Details

SNP ID
rs141400264
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:116393559 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTATTCATAAGAACCCCAACACAT[C/T]GGAGCCCCAACACCTGTTGGTGATG
Phenotype
MIM: 182310
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP1A1 PubMed Links

Gene Details

Gene
ATP1A1
Gene Name
ATPase Na+/K+ transporting subunit alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000701.7 1859 Missense Mutation TCG,TTG S499L NP_000692.2
NM_001160233.1 1859 Missense Mutation TCG,TTG S499L NP_001153705.1
NM_001160234.1 1859 Missense Mutation TCG,TTG S468L NP_001153706.1
XM_017001360.1 1859 Missense Mutation TCG,TTG S468L XP_016856849.1
XM_017001361.1 1859 Missense Mutation TCG,TTG S468L XP_016856850.1
Gene
ATP1A1-AS1
Gene Name
ATP1A1 antisense RNA 1
There are no transcripts associated with this gene.

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