Product Details

SNP ID
rs141335001
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:110281883 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGAGCCTGGAACAGGTCAAGAAG[C/T]TTAAGGAGAGATGGGGCTCCAACGG
Phenotype
MIM: 108740
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP2A2 PubMed Links

Gene Details

Gene
ATP2A2
Gene Name
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001681.3 657 Missense Mutation CTT,TTT L32F NP_001672.1
NM_170665.3 657 Missense Mutation CTT,TTT L32F NP_733765.1
XM_005253888.2 657 Missense Mutation CTT,TTT L32F XP_005253945.1
XM_011538402.2 657 Missense Mutation CTT,TTT L32F XP_011536704.1

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