Product Details

SNP ID

rs147231843

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49860250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTCACGGTGTCTGTGGTTTTCT[C/T]ACATAAATTTTCAATCCAGCTAGTG

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	3876	Missense Mutation	AAG,GAG	K1175E	NP_079113.2
XM_011522046.2	3876	Missense Mutation	AAG,GAG	K1240E	XP_011520348.1
XM_011522047.2	3876	Missense Mutation	AAG,GAG	K1203E	XP_011520349.1
XM_011522048.1	3876	Missense Mutation	AAG,GAG	K1203E	XP_011520350.1
XM_011522049.2	3876	Missense Mutation	AAG,GAG	K1203E	XP_011520351.1
XM_011522051.2	3876	Missense Mutation	AAG,GAG	K1203E	XP_011520353.1
XM_011522052.2	3876	Missense Mutation	AAG,GAG	K1203E	XP_011520354.1
XM_011522053.1	3876	Missense Mutation	AAG,GAG	K1203E	XP_011520355.1
XM_011522056.2	3876	Missense Mutation	AAG,GAG	K1305E	XP_011520358.2
XM_011522058.2	3876	Missense Mutation	AAG,GAG	K1094E	XP_011520360.1
XM_011522059.1	3876	Missense Mutation	AAG,GAG	K1088E	XP_011520361.1
XM_011522060.1	3876	Missense Mutation	AAG,GAG	K1076E	XP_011520362.1
XM_011522061.1	3876	Missense Mutation	AAG,GAG	K1076E	XP_011520363.1
XM_011522062.1	3876	Missense Mutation	AAG,GAG	K1076E	XP_011520364.1
XM_011522063.1	3876	Missense Mutation	AAG,GAG	K1076E	XP_011520365.1
XM_011522064.1	3876	Missense Mutation	AAG,GAG	K991E	XP_011520366.1
XM_011522069.2	3876	Missense Mutation	AAG,GAG	K920E	XP_011520371.1
XM_011522070.1	3876	Missense Mutation	AAG,GAG	K722E	XP_011520372.1
XM_017022587.1	3876	Missense Mutation	AAG,GAG	K1277E	XP_016878076.1
XM_017022588.1	3876	Missense Mutation	AAG,GAG	K1252E	XP_016878077.1
XM_017022589.1	3876	Missense Mutation	AAG,GAG	K1242E	XP_016878078.1
XM_017022590.1	3876	Missense Mutation	AAG,GAG	K1203E	XP_016878079.1
XM_017022591.1	3876	Missense Mutation	AAG,GAG	K1203E	XP_016878080.1
XM_017022592.1	3876	Missense Mutation	AAG,GAG	K1175E	XP_016878081.1
XM_017022593.1	3876	Intron			XP_016878082.1
XM_017022594.1	3876	Missense Mutation	AAG,GAG	K1094E	XP_016878083.1
XM_017022595.1	3876	Missense Mutation	AAG,GAG	K1076E	XP_016878084.1
XM_017022596.1	3876	Missense Mutation	AAG,GAG	K964E	XP_016878085.1
XM_017022597.1	3876	Intron			XP_016878086.1
XM_017022598.1	3876	Intron			XP_016878087.1
XM_017022599.1	3876	Intron			XP_016878088.1

View Full Product Details