Product Details

SNP ID
rs115449702
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:89591055 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGTAGCAGACTTGTTCATTTCTA[C/T]TGTAAGGTGAATTCCACTGTCAACA
Phenotype
MIM: 108731
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP2B1 PubMed Links

Gene Details

Gene
ATP2B1
Gene Name
ATPase plasma membrane Ca2+ transporting 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001323.1 4035 UTR 3 NP_001001323.1
NM_001682.2 4035 Missense Mutation ATA,GTA I1198V NP_001673.2
XM_011538407.2 4035 Missense Mutation ATA,GTA I1227V XP_011536709.1
XM_017019357.1 4035 Missense Mutation ATA,GTA I1191V XP_016874846.1
XM_017019358.1 4035 Missense Mutation ATA,GTA I1162V XP_016874847.1
XM_017019359.1 4035 UTR 3 XP_016874848.1
XM_017019360.1 4035 Intron XP_016874849.1

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