Product Details

SNP ID

rs79668152

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49860371 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATAAGCTCTCCATAGCCTTCTTG[C/G]TGAGCAAAAGCATATCCAGACCTTC

Phenotype

MIM: 609123

Polymorphism

C/G, Transversion 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	3755	Missense Mutation	CAC,CAG	H1134Q	NP_079113.2
XM_011522046.2	3755	Missense Mutation	CAC,CAG	H1199Q	XP_011520348.1
XM_011522047.2	3755	Missense Mutation	CAC,CAG	H1162Q	XP_011520349.1
XM_011522048.1	3755	Missense Mutation	CAC,CAG	H1162Q	XP_011520350.1
XM_011522049.2	3755	Missense Mutation	CAC,CAG	H1162Q	XP_011520351.1
XM_011522051.2	3755	Missense Mutation	CAC,CAG	H1162Q	XP_011520353.1
XM_011522052.2	3755	Missense Mutation	CAC,CAG	H1162Q	XP_011520354.1
XM_011522053.1	3755	Missense Mutation	CAC,CAG	H1162Q	XP_011520355.1
XM_011522056.2	3755	Missense Mutation	CAC,CAG	H1264Q	XP_011520358.2
XM_011522058.2	3755	Missense Mutation	CAC,CAG	H1053Q	XP_011520360.1
XM_011522059.1	3755	Missense Mutation	CAC,CAG	H1047Q	XP_011520361.1
XM_011522060.1	3755	Missense Mutation	CAC,CAG	H1035Q	XP_011520362.1
XM_011522061.1	3755	Missense Mutation	CAC,CAG	H1035Q	XP_011520363.1
XM_011522062.1	3755	Missense Mutation	CAC,CAG	H1035Q	XP_011520364.1
XM_011522063.1	3755	Missense Mutation	CAC,CAG	H1035Q	XP_011520365.1
XM_011522064.1	3755	Missense Mutation	CAC,CAG	H950Q	XP_011520366.1
XM_011522069.2	3755	Missense Mutation	CAC,CAG	H879Q	XP_011520371.1
XM_011522070.1	3755	Missense Mutation	CAC,CAG	H681Q	XP_011520372.1
XM_017022587.1	3755	Missense Mutation	CAC,CAG	H1236Q	XP_016878076.1
XM_017022588.1	3755	Missense Mutation	CAC,CAG	H1211Q	XP_016878077.1
XM_017022589.1	3755	Missense Mutation	CAC,CAG	H1201Q	XP_016878078.1
XM_017022590.1	3755	Missense Mutation	CAC,CAG	H1162Q	XP_016878079.1
XM_017022591.1	3755	Missense Mutation	CAC,CAG	H1162Q	XP_016878080.1
XM_017022592.1	3755	Missense Mutation	CAC,CAG	H1134Q	XP_016878081.1
XM_017022593.1	3755	Intron			XP_016878082.1
XM_017022594.1	3755	Missense Mutation	CAC,CAG	H1053Q	XP_016878083.1
XM_017022595.1	3755	Missense Mutation	CAC,CAG	H1035Q	XP_016878084.1
XM_017022596.1	3755	Missense Mutation	CAC,CAG	H923Q	XP_016878085.1
XM_017022597.1	3755	Intron			XP_016878086.1
XM_017022598.1	3755	Intron			XP_016878087.1
XM_017022599.1	3755	Intron			XP_016878088.1

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