Product Details

SNP ID

rs114457386

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49860397 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGCAAAAGCATATCCAGACCTTC[C/T]TGAGCTTGACCTGCGGGTCCGAGGC

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	3729	Missense Mutation	AGA,GGA	R1126G	NP_079113.2
XM_011522046.2	3729	Missense Mutation	AGA,GGA	R1191G	XP_011520348.1
XM_011522047.2	3729	Missense Mutation	AGA,GGA	R1154G	XP_011520349.1
XM_011522048.1	3729	Missense Mutation	AGA,GGA	R1154G	XP_011520350.1
XM_011522049.2	3729	Missense Mutation	AGA,GGA	R1154G	XP_011520351.1
XM_011522051.2	3729	Missense Mutation	AGA,GGA	R1154G	XP_011520353.1
XM_011522052.2	3729	Missense Mutation	AGA,GGA	R1154G	XP_011520354.1
XM_011522053.1	3729	Missense Mutation	AGA,GGA	R1154G	XP_011520355.1
XM_011522056.2	3729	Missense Mutation	AGA,GGA	R1256G	XP_011520358.2
XM_011522058.2	3729	Missense Mutation	AGA,GGA	R1045G	XP_011520360.1
XM_011522059.1	3729	Missense Mutation	AGA,GGA	R1039G	XP_011520361.1
XM_011522060.1	3729	Missense Mutation	AGA,GGA	R1027G	XP_011520362.1
XM_011522061.1	3729	Missense Mutation	AGA,GGA	R1027G	XP_011520363.1
XM_011522062.1	3729	Missense Mutation	AGA,GGA	R1027G	XP_011520364.1
XM_011522063.1	3729	Missense Mutation	AGA,GGA	R1027G	XP_011520365.1
XM_011522064.1	3729	Missense Mutation	AGA,GGA	R942G	XP_011520366.1
XM_011522069.2	3729	Missense Mutation	AGA,GGA	R871G	XP_011520371.1
XM_011522070.1	3729	Missense Mutation	AGA,GGA	R673G	XP_011520372.1
XM_017022587.1	3729	Missense Mutation	AGA,GGA	R1228G	XP_016878076.1
XM_017022588.1	3729	Missense Mutation	AGA,GGA	R1203G	XP_016878077.1
XM_017022589.1	3729	Missense Mutation	AGA,GGA	R1193G	XP_016878078.1
XM_017022590.1	3729	Missense Mutation	AGA,GGA	R1154G	XP_016878079.1
XM_017022591.1	3729	Missense Mutation	AGA,GGA	R1154G	XP_016878080.1
XM_017022592.1	3729	Missense Mutation	AGA,GGA	R1126G	XP_016878081.1
XM_017022593.1	3729	Intron			XP_016878082.1
XM_017022594.1	3729	Missense Mutation	AGA,GGA	R1045G	XP_016878083.1
XM_017022595.1	3729	Missense Mutation	AGA,GGA	R1027G	XP_016878084.1
XM_017022596.1	3729	Missense Mutation	AGA,GGA	R915G	XP_016878085.1
XM_017022597.1	3729	Intron			XP_016878086.1
XM_017022598.1	3729	Intron			XP_016878087.1
XM_017022599.1	3729	Intron			XP_016878088.1

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