Product Details

SNP ID

rs145783329

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49860327 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATGTTGGGGGTGGATTTTTAGCT[C/T]GCATATTTTTTCCAGATGTGATAAG

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	3799	Missense Mutation	CAA,CGA	Q1149R	NP_079113.2
XM_011522046.2	3799	Missense Mutation	CAA,CGA	Q1214R	XP_011520348.1
XM_011522047.2	3799	Missense Mutation	CAA,CGA	Q1177R	XP_011520349.1
XM_011522048.1	3799	Missense Mutation	CAA,CGA	Q1177R	XP_011520350.1
XM_011522049.2	3799	Missense Mutation	CAA,CGA	Q1177R	XP_011520351.1
XM_011522051.2	3799	Missense Mutation	CAA,CGA	Q1177R	XP_011520353.1
XM_011522052.2	3799	Missense Mutation	CAA,CGA	Q1177R	XP_011520354.1
XM_011522053.1	3799	Missense Mutation	CAA,CGA	Q1177R	XP_011520355.1
XM_011522056.2	3799	Missense Mutation	CAA,CGA	Q1279R	XP_011520358.2
XM_011522058.2	3799	Missense Mutation	CAA,CGA	Q1068R	XP_011520360.1
XM_011522059.1	3799	Missense Mutation	CAA,CGA	Q1062R	XP_011520361.1
XM_011522060.1	3799	Missense Mutation	CAA,CGA	Q1050R	XP_011520362.1
XM_011522061.1	3799	Missense Mutation	CAA,CGA	Q1050R	XP_011520363.1
XM_011522062.1	3799	Missense Mutation	CAA,CGA	Q1050R	XP_011520364.1
XM_011522063.1	3799	Missense Mutation	CAA,CGA	Q1050R	XP_011520365.1
XM_011522064.1	3799	Missense Mutation	CAA,CGA	Q965R	XP_011520366.1
XM_011522069.2	3799	Missense Mutation	CAA,CGA	Q894R	XP_011520371.1
XM_011522070.1	3799	Missense Mutation	CAA,CGA	Q696R	XP_011520372.1
XM_017022587.1	3799	Missense Mutation	CAA,CGA	Q1251R	XP_016878076.1
XM_017022588.1	3799	Missense Mutation	CAA,CGA	Q1226R	XP_016878077.1
XM_017022589.1	3799	Missense Mutation	CAA,CGA	Q1216R	XP_016878078.1
XM_017022590.1	3799	Missense Mutation	CAA,CGA	Q1177R	XP_016878079.1
XM_017022591.1	3799	Missense Mutation	CAA,CGA	Q1177R	XP_016878080.1
XM_017022592.1	3799	Missense Mutation	CAA,CGA	Q1149R	XP_016878081.1
XM_017022593.1	3799	Intron			XP_016878082.1
XM_017022594.1	3799	Missense Mutation	CAA,CGA	Q1068R	XP_016878083.1
XM_017022595.1	3799	Missense Mutation	CAA,CGA	Q1050R	XP_016878084.1
XM_017022596.1	3799	Missense Mutation	CAA,CGA	Q938R	XP_016878085.1
XM_017022597.1	3799	Intron			XP_016878086.1
XM_017022598.1	3799	Intron			XP_016878087.1
XM_017022599.1	3799	Intron			XP_016878088.1

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