Product Details

SNP ID

rs201831894

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49860330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTGGGGGTGGATTTTTAGCTCGC[A/G]TATTTTTTCCAGATGTGATAAGCTC

Phenotype

MIM: 609123

Polymorphism

A/G, 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	3796	Missense Mutation	ACG,ATG	T1148M	NP_079113.2
XM_011522046.2	3796	Missense Mutation	ACG,ATG	T1213M	XP_011520348.1
XM_011522047.2	3796	Missense Mutation	ACG,ATG	T1176M	XP_011520349.1
XM_011522048.1	3796	Missense Mutation	ACG,ATG	T1176M	XP_011520350.1
XM_011522049.2	3796	Missense Mutation	ACG,ATG	T1176M	XP_011520351.1
XM_011522051.2	3796	Missense Mutation	ACG,ATG	T1176M	XP_011520353.1
XM_011522052.2	3796	Missense Mutation	ACG,ATG	T1176M	XP_011520354.1
XM_011522053.1	3796	Missense Mutation	ACG,ATG	T1176M	XP_011520355.1
XM_011522056.2	3796	Missense Mutation	ACG,ATG	T1278M	XP_011520358.2
XM_011522058.2	3796	Missense Mutation	ACG,ATG	T1067M	XP_011520360.1
XM_011522059.1	3796	Missense Mutation	ACG,ATG	T1061M	XP_011520361.1
XM_011522060.1	3796	Missense Mutation	ACG,ATG	T1049M	XP_011520362.1
XM_011522061.1	3796	Missense Mutation	ACG,ATG	T1049M	XP_011520363.1
XM_011522062.1	3796	Missense Mutation	ACG,ATG	T1049M	XP_011520364.1
XM_011522063.1	3796	Missense Mutation	ACG,ATG	T1049M	XP_011520365.1
XM_011522064.1	3796	Missense Mutation	ACG,ATG	T964M	XP_011520366.1
XM_011522069.2	3796	Missense Mutation	ACG,ATG	T893M	XP_011520371.1
XM_011522070.1	3796	Missense Mutation	ACG,ATG	T695M	XP_011520372.1
XM_017022587.1	3796	Missense Mutation	ACG,ATG	T1250M	XP_016878076.1
XM_017022588.1	3796	Missense Mutation	ACG,ATG	T1225M	XP_016878077.1
XM_017022589.1	3796	Missense Mutation	ACG,ATG	T1215M	XP_016878078.1
XM_017022590.1	3796	Missense Mutation	ACG,ATG	T1176M	XP_016878079.1
XM_017022591.1	3796	Missense Mutation	ACG,ATG	T1176M	XP_016878080.1
XM_017022592.1	3796	Missense Mutation	ACG,ATG	T1148M	XP_016878081.1
XM_017022593.1	3796	Intron			XP_016878082.1
XM_017022594.1	3796	Missense Mutation	ACG,ATG	T1067M	XP_016878083.1
XM_017022595.1	3796	Missense Mutation	ACG,ATG	T1049M	XP_016878084.1
XM_017022596.1	3796	Missense Mutation	ACG,ATG	T937M	XP_016878085.1
XM_017022597.1	3796	Intron			XP_016878086.1
XM_017022598.1	3796	Intron			XP_016878087.1
XM_017022599.1	3796	Intron			XP_016878088.1

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