Entrez Gene ID	338
Official Gene Symbol	APOB (GeneCards)
Full name	apolipoprotein B
Location	2p24.1
Other ids	Vega : OTTHUMG00000090785 MIM : 107730 HGNC : HGNC:603 Ensembl : ENSG00000084674
Other names	FLDB, LDLCQ4, apoB-48, apoB-100
Summary	This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008]

Variants

Found 138 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
2918	338	APOB	2	21295580	21295580	Asymptomatic	HiSeq X Ten
3215	338	APOB	2	21290970	21290970	Asymptomatic	HiSeq X Ten
3405	338	APOB	2	21454326	21454326	Asymptomatic	HiSeq X Ten
4038	338	APOB	2	21582544	21582544	Asymptomatic	HiSeq X Ten
24727	338	APOB	2	21632645	21632645	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
30479	338	APOB	2	21230756	21230756	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30480	338	APOB	2	21225654	21225654	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30481	338	APOB	2	21228914	21228914	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30482	338	APOB	2	21231351	21231351	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30483	338	APOB	2	21227975	21227975	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30484	338	APOB	2	21232368	21232368	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30485	338	APOB	2	21234529	21234529	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30486	338	APOB	2	21259986	21259986	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30487	338	APOB	2	21245854	21245854	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30488	338	APOB	2	21231674	21231674	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30489	338	APOB	2	21229812	21229812	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30490	338	APOB	2	21232139	21232139	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30491	338	APOB	2	21231674	21231674	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30492	338	APOB	2	21231904	21231904	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30493	338	APOB	2	21231956	21231956	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30494	338	APOB	2	21238069	21238069	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30495	338	APOB	2	21226083	21226083	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30496	338	APOB	2	21239490	21239490	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30497	338	APOB	2	21231795	21231795	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30498	338	APOB	2	21238069	21238069	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30499	338	APOB	2	21225144	21225145	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30500	338	APOB	2	21228752	21228752	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30501	338	APOB	2	21237971	21237971	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30502	338	APOB	2	21231657	21231657	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30503	338	APOB	2	21232665	21232665	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30504	338	APOB	2	21226126	21226126	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30505	338	APOB	2	21234732	21234732	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30506	338	APOB	2	21238318	21238319	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30507	338	APOB	2	21228707	21228707	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30508	338	APOB	2	21228851	21228851	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30509	338	APOB	2	21228914	21228914	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30510	338	APOB	2	21229256	21229256	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30511	338	APOB	2	21260037	21260037	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30512	338	APOB	2	21227294	21227294	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30513	338	APOB	2	21228486	21228486	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31373	338	APOB	2	21230715	21230715	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31374	338	APOB	2	21228246	21228246	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31375	338	APOB	2	21230763	21230763	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31376	338	APOB	2	21249674	21249674	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31377	338	APOB	2	21236398	21236398	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31378	338	APOB	2	21232140	21232140	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31379	338	APOB	2	21230873	21230873	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31380	338	APOB	2	21245896	21245896	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31381	338	APOB	2	21231384	21231384	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31382	338	APOB	2	21232319	21232319	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31383	338	APOB	2	21235257	21235257	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31384	338	APOB	2	21260931	21260932	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31385	338	APOB	2	21225496	21225496	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31386	338	APOB	2	21242657	21242657	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31387	338	APOB	2	21232000	21232000	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31388	338	APOB	2	21230243	21230243	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31389	338	APOB	2	21230851	21230851	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31390	338	APOB	2	21239424	21239424	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31391	338	APOB	2	21235396	21235396	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31392	338	APOB	2	21228999	21228999	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31393	338	APOB	2	21236353	21236353	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31394	338	APOB	2	21228912	21228912	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31395	338	APOB	2	21251316	21251316	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31396	338	APOB	2	21229448	21229448	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31397	338	APOB	2	21229988	21229988	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31398	338	APOB	2	21256307	21256308	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31399	338	APOB	2	21226027	21226027	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31400	338	APOB	2	21235060	21235060	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31401	338	APOB	2	21236055	21236055	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31402	338	APOB	2	21231277	21231277	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31403	338	APOB	2	21225617	21225617	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31404	338	APOB	2	21235361	21235361	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31405	338	APOB	2	21246419	21246419	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31406	338	APOB	2	21228225	21228225	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31407	338	APOB	2	21235163	21235163	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31408	338	APOB	2	21235262	21235262	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31409	338	APOB	2	21237325	21237325	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31410	338	APOB	2	21260940	21260940	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31411	338	APOB	2	21225814	21225814	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31412	338	APOB	2	21249827	21249827	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33044	338	APOB	2	21233672	21233672	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33045	338	APOB	2	21233672	21233672	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33046	338	APOB	2	21252859	21252860	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33047	338	APOB	2	21233471	21233471	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33048	338	APOB	2	21229973	21229973	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33049	338	APOB	2	21229973	21229973	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33050	338	APOB	2	21231518	21231518	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33051	338	APOB	2	21231511	21231511	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33052	338	APOB	2	21233893	21233893	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33053	338	APOB	2	21251278	21251278	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33054	338	APOB	2	21251278	21251278	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33055	338	APOB	2	21256285	21256285	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33056	338	APOB	2	21227281	21227281	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33057	338	APOB	2	21232383	21232383	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33058	338	APOB	2	21234286	21234286	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33059	338	APOB	2	21251200	21251200	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33060	338	APOB	2	21231345	21231345	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33061	338	APOB	2	21235184	21235184	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33062	338	APOB	2	21265255	21265255	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33063	338	APOB	2	21235293	21235293	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33064	338	APOB	2	21230594	21230594	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33065	338	APOB	2	21231284	21231284	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33066	338	APOB	2	21224947	21224947	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33067	338	APOB	2	21231284	21231284	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33068	338	APOB	2	21236168	21236168	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33069	338	APOB	2	21260977	21260977	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33070	338	APOB	2	21233223	21233223	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33071	338	APOB	2	21235361	21235361	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33072	338	APOB	2	21233928	21233928	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33073	338	APOB	2	21234637	21234637	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33074	338	APOB	2	21234237	21234237	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33075	338	APOB	2	21236178	21236178	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33076	338	APOB	2	21225528	21225528	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33077	338	APOB	2	21235078	21235078	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33078	338	APOB	2	21230552	21230552	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33079	338	APOB	2	21230365	21230365	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33080	338	APOB	2	21232013	21232013	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33081	338	APOB	2	21260035	21260035	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33082	338	APOB	2	21236327	21236327	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33083	338	APOB	2	21236327	21236327	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33084	338	APOB	2	21255274	21255274	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33085	338	APOB	2	21234764	21234764	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33086	338	APOB	2	21252631	21252631	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34004	338	APOB	2	21226064	21226064	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34005	338	APOB	2	21263928	21263928	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34006	338	APOB	2	21228284	21228284	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34007	338	APOB	2	21228107	21228107	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34008	338	APOB	2	21229098	21229098	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34009	338	APOB	2	21234295	21234295	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34010	338	APOB	2	21233947	21233947	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34011	338	APOB	2	21229039	21229039	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34012	338	APOB	2	21236236	21236236	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34013	338	APOB	2	21246458	21246458	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34014	338	APOB	2	21227255	21227255	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34015	338	APOB	2	21236236	21236236	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34016	338	APOB	2	21231264	21231264	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34017	338	APOB	2	21228146	21228146	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34018	338	APOB	2	21247996	21247996	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel

APOB (Entrez ID: 338)

Variants