Product Details

SNP ID
rs200267569
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:84368713 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAGAAGGACGAAGAGGAAGCCT[C/T]GGTGAGTCCCCGCGACTCCGCGCCG
Phenotype
MIM: 613082
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP2C2 PubMed Links

Gene Details

Gene
ATP2C2
Gene Name
ATPase secretory pathway Ca2+ transporting 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286527.2 191 Missense Mutation TCG,TTG S33L NP_001273456.2
NM_001291454.1 191 Intron NP_001278383.1
NM_014861.3 191 Missense Mutation TCG,TTG S33L NP_055676.3
XM_011523486.2 191 Intron XP_011521788.1
XM_011523487.2 191 Intron XP_011521789.1

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