Product Details

SNP ID
rs146513232
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:42413003 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGATTCCATTTTCATCTTGAGAGAA[C/T]GCATACCCATCTGTAGGTTAATGAT
Phenotype
MIM: 609542
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP8A1 PubMed Links

Gene Details

Gene
ATP8A1
Gene Name
ATPase phospholipid transporting 8A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105529.1 3595 Silent Mutation GCA,GCG A1121A NP_001098999.1
NM_006095.2 3595 Silent Mutation GCA,GCG A1136A NP_006086.1
XM_005248043.2 3595 Silent Mutation GCA,GCG A1136A XP_005248100.1
XM_011513615.1 3595 Silent Mutation GCA,GCG A1143A XP_011511917.1
XM_011513616.2 3595 Silent Mutation GCA,GCG A1143A XP_011511918.1
XM_011513618.1 3595 Silent Mutation GCA,GCG A1128A XP_011511920.1
XM_017007645.1 3595 Silent Mutation GCA,GCG A1121A XP_016863134.1
XM_017007646.1 3595 Silent Mutation GCA,GCG A979A XP_016863135.1
XM_017007647.1 3595 Silent Mutation GCA,GCG A957A XP_016863136.1

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