Product Details

SNP ID
rs112287290
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:42413000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACGATTCCATTTTCATCTTGAGA[A/G]AACGCATACCCATCTGTAGGTTAAT
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 3598 Silent Mutation TTC,TTT F1122F NP_001098999.1
NM_006095.2 3598 Silent Mutation TTC,TTT F1137F NP_006086.1
XM_005248043.2 3598 Silent Mutation TTC,TTT F1137F XP_005248100.1
XM_011513615.1 3598 Silent Mutation TTC,TTT F1144F XP_011511917.1
XM_011513616.2 3598 Silent Mutation TTC,TTT F1144F XP_011511918.1
XM_011513618.1 3598 Silent Mutation TTC,TTT F1129F XP_011511920.1
XM_017007645.1 3598 Silent Mutation TTC,TTT F1122F XP_016863134.1
XM_017007646.1 3598 Silent Mutation TTC,TTT F980F XP_016863135.1
XM_017007647.1 3598 Silent Mutation TTC,TTT F958F XP_016863136.1

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