Product Details

SNP ID
rs199629231
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:169111409 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTACGTAATATTTTATGGCTGCC[C/T]GGCTGGCATCTTCATCGGAACCATC
Phenotype
MIM: 182330
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP1B1 PubMed Links

Gene Details

Gene
ATP1B1
Gene Name
ATPase Na+/K+ transporting subunit beta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001677.3 258 Missense Mutation CCG,CTG P46L NP_001668.1
Gene
LOC101928596
Gene Name
uncharacterized LOC101928596
There are no transcripts associated with this gene.

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