Product Details

SNP ID
rs111511494
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:42412972 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATATGCTCTTATCACTTCAGACT[A/G]TGAAACGATTCCATTTTCATCTTGA
Phenotype
MIM: 609542
Polymorphism
A/G, 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 3626 Nonsense Mutation CAG,TAG Q1132* NP_001098999.1
NM_006095.2 3626 Nonsense Mutation CAG,TAG Q1147* NP_006086.1
XM_005248043.2 3626 Nonsense Mutation CAG,TAG Q1147* XP_005248100.1
XM_011513615.1 3626 Nonsense Mutation CAG,TAG Q1154* XP_011511917.1
XM_011513616.2 3626 Nonsense Mutation CAG,TAG Q1154* XP_011511918.1
XM_011513618.1 3626 Nonsense Mutation CAG,TAG Q1139* XP_011511920.1
XM_017007645.1 3626 Nonsense Mutation CAG,TAG Q1132* XP_016863134.1
XM_017007646.1 3626 Nonsense Mutation CAG,TAG Q990* XP_016863135.1
XM_017007647.1 3626 Nonsense Mutation CAG,TAG Q968* XP_016863136.1

View Full Product Details