Product Details

SNP ID
rs115284127
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:49860252 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCACGGTGTCTGTGGTTTTCTTA[C/T]ATAAATTTTCAATCCAGCTAGTGCT
Phenotype
MIM: 609123
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ATP8B4 PubMed Links

Gene Details

Gene
ATP8B4
Gene Name
ATPase phospholipid transporting 8B4 (putative)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024837.3 3874 Missense Mutation TAT,TGT Y1174C NP_079113.2
XM_011522046.2 3874 Missense Mutation TAT,TGT Y1239C XP_011520348.1
XM_011522047.2 3874 Missense Mutation TAT,TGT Y1202C XP_011520349.1
XM_011522048.1 3874 Missense Mutation TAT,TGT Y1202C XP_011520350.1
XM_011522049.2 3874 Missense Mutation TAT,TGT Y1202C XP_011520351.1
XM_011522051.2 3874 Missense Mutation TAT,TGT Y1202C XP_011520353.1
XM_011522052.2 3874 Missense Mutation TAT,TGT Y1202C XP_011520354.1
XM_011522053.1 3874 Missense Mutation TAT,TGT Y1202C XP_011520355.1
XM_011522056.2 3874 Missense Mutation TAT,TGT Y1304C XP_011520358.2
XM_011522058.2 3874 Missense Mutation TAT,TGT Y1093C XP_011520360.1
XM_011522059.1 3874 Missense Mutation TAT,TGT Y1087C XP_011520361.1
XM_011522060.1 3874 Missense Mutation TAT,TGT Y1075C XP_011520362.1
XM_011522061.1 3874 Missense Mutation TAT,TGT Y1075C XP_011520363.1
XM_011522062.1 3874 Missense Mutation TAT,TGT Y1075C XP_011520364.1
XM_011522063.1 3874 Missense Mutation TAT,TGT Y1075C XP_011520365.1
XM_011522064.1 3874 Missense Mutation TAT,TGT Y990C XP_011520366.1
XM_011522069.2 3874 Missense Mutation TAT,TGT Y919C XP_011520371.1
XM_011522070.1 3874 Missense Mutation TAT,TGT Y721C XP_011520372.1
XM_017022587.1 3874 Missense Mutation TAT,TGT Y1276C XP_016878076.1
XM_017022588.1 3874 Missense Mutation TAT,TGT Y1251C XP_016878077.1
XM_017022589.1 3874 Missense Mutation TAT,TGT Y1241C XP_016878078.1
XM_017022590.1 3874 Missense Mutation TAT,TGT Y1202C XP_016878079.1
XM_017022591.1 3874 Missense Mutation TAT,TGT Y1202C XP_016878080.1
XM_017022592.1 3874 Missense Mutation TAT,TGT Y1174C XP_016878081.1
XM_017022593.1 3874 Intron XP_016878082.1
XM_017022594.1 3874 Missense Mutation TAT,TGT Y1093C XP_016878083.1
XM_017022595.1 3874 Missense Mutation TAT,TGT Y1075C XP_016878084.1
XM_017022596.1 3874 Missense Mutation TAT,TGT Y963C XP_016878085.1
XM_017022597.1 3874 Intron XP_016878086.1
XM_017022598.1 3874 Intron XP_016878087.1
XM_017022599.1 3874 Intron XP_016878088.1

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