Product Details

SNP ID
rs200013593
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:84368680 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTTCTCGGGCGGGGGCCGCCAGT[A/G]CCAGGCGCTGGAGAAGGACGAAGAG
Phenotype
MIM: 613082
Polymorphism
A/G, 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_001286527.2 158 Missense Mutation TAC,TGC Y22C NP_001273456.2
NM_001291454.1 158 Intron NP_001278383.1
NM_014861.3 158 Missense Mutation TAC,TGC Y22C NP_055676.3
XM_011523486.2 158 Intron XP_011521788.1
XM_011523487.2 158 Intron XP_011521789.1

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