Product Details

SNP ID

rs16962989

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49860278 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATAAATTTTCAATCCAGCTAGTGCT[A/T]TTATAATGTGTCTTTTCCAGCCCTG

Phenotype

MIM: 609123

Polymorphism

A/T, 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	3848	Missense Mutation	AAA,AAT	K1165N	NP_079113.2
XM_011522046.2	3848	Missense Mutation	AAA,AAT	K1230N	XP_011520348.1
XM_011522047.2	3848	Missense Mutation	AAA,AAT	K1193N	XP_011520349.1
XM_011522048.1	3848	Missense Mutation	AAA,AAT	K1193N	XP_011520350.1
XM_011522049.2	3848	Missense Mutation	AAA,AAT	K1193N	XP_011520351.1
XM_011522051.2	3848	Missense Mutation	AAA,AAT	K1193N	XP_011520353.1
XM_011522052.2	3848	Missense Mutation	AAA,AAT	K1193N	XP_011520354.1
XM_011522053.1	3848	Missense Mutation	AAA,AAT	K1193N	XP_011520355.1
XM_011522056.2	3848	Missense Mutation	AAA,AAT	K1295N	XP_011520358.2
XM_011522058.2	3848	Missense Mutation	AAA,AAT	K1084N	XP_011520360.1
XM_011522059.1	3848	Missense Mutation	AAA,AAT	K1078N	XP_011520361.1
XM_011522060.1	3848	Missense Mutation	AAA,AAT	K1066N	XP_011520362.1
XM_011522061.1	3848	Missense Mutation	AAA,AAT	K1066N	XP_011520363.1
XM_011522062.1	3848	Missense Mutation	AAA,AAT	K1066N	XP_011520364.1
XM_011522063.1	3848	Missense Mutation	AAA,AAT	K1066N	XP_011520365.1
XM_011522064.1	3848	Missense Mutation	AAA,AAT	K981N	XP_011520366.1
XM_011522069.2	3848	Missense Mutation	AAA,AAT	K910N	XP_011520371.1
XM_011522070.1	3848	Missense Mutation	AAA,AAT	K712N	XP_011520372.1
XM_017022587.1	3848	Missense Mutation	AAA,AAT	K1267N	XP_016878076.1
XM_017022588.1	3848	Missense Mutation	AAA,AAT	K1242N	XP_016878077.1
XM_017022589.1	3848	Missense Mutation	AAA,AAT	K1232N	XP_016878078.1
XM_017022590.1	3848	Missense Mutation	AAA,AAT	K1193N	XP_016878079.1
XM_017022591.1	3848	Missense Mutation	AAA,AAT	K1193N	XP_016878080.1
XM_017022592.1	3848	Missense Mutation	AAA,AAT	K1165N	XP_016878081.1
XM_017022593.1	3848	Intron			XP_016878082.1
XM_017022594.1	3848	Missense Mutation	AAA,AAT	K1084N	XP_016878083.1
XM_017022595.1	3848	Missense Mutation	AAA,AAT	K1066N	XP_016878084.1
XM_017022596.1	3848	Missense Mutation	AAA,AAT	K954N	XP_016878085.1
XM_017022597.1	3848	Intron			XP_016878086.1
XM_017022598.1	3848	Intron			XP_016878087.1
XM_017022599.1	3848	Intron			XP_016878088.1

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