Product Details

SNP ID
rs143155398
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:160190825 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCACTGCTGTTGCTGCTGGTGC[C/T]AGGGACACCCAAGTCAGGGGTACAG
Phenotype
MIM: 607321 MIM: 114250
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP1A4 PubMed Links

Gene Details

Gene
ATP1A4
Gene Name
ATPase Na+/K+ transporting subunit alpha 4
There are no transcripts associated with this gene.

Gene
CASQ1
Gene Name
calsequestrin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001231.4 331 Missense Mutation CCA,CTA P25L NP_001222.3

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