MTTP

microsomal triglyceride transfer protein

Summary

MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]

Known Variants902 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs113839249	4:100,483,358	A/T	—	—
rs17029137	4:100,484,312	G/A	regulatory region variant	—
rs11944749	4:100,485,244	G/C	—	benign
rs11944752	4:100,485,255	G/A	—	benign
rs569667113	4:100,485,282	G/A	—	conflicting classifications of pathogenicity
rs886058953	4:100,485,291	G/A	—	uncertain significance
rs886058954	4:100,485,343	C/G	—	uncertain significance
rs886058955	4:100,485,347	C/A	—	uncertain significance
rs963459229	4:100,485,397	G/A	—	likely benign
rs28431971	4:100,487,315	G/A	upstream gene variant	—
rs28497720	4:100,487,370	C/A	—	—
rs1800591	4:100,495,488	G/T	intron variant	benign
rs1800803	4:100,495,581	A/T	intron variant	—
rs1800804	4:100,495,817	T/C	—	benign
rs761717058	4:100,495,983	T/C	—	uncertain significance
rs767201629	4:100,495,985	C/T	—	uncertain significance
rs181769817	4:100,496,013	C/T	—	uncertain significance
rs886058956	4:100,496,039	T/C	—	uncertain significance
rs752823787	4:100,496,047	G/A	—	uncertain significance
rs41275707	4:100,496,061	G/A	—	likely benign
rs2476074136	4:100,496,082	G/T	—	uncertain significance
rs2476074140	4:100,496,084	G/T	—	likely benign
rs1454278856	4:100,496,086	T/G	—	uncertain significance
rs2476074162	4:100,496,090	T/C	—	likely benign
rs753522604	4:100,496,096	C/T	—	likely benign
rs764357849	4:100,496,100	A/G	—	uncertain significance
rs1221999891	4:100,496,102	T/C	—	likely benign
rs7667001	4:100,496,105	C/G	—	benign
rs371979566	4:100,496,109	T/C	—	uncertain significance
rs1724921174	4:100,496,118	T/A	—	uncertain significance
rs757648568	4:100,496,120	T/C	—	likely benign
rs2476074288	4:100,496,135	T/C	—	likely benign
rs2110207599	4:100,496,136	G/T	—	likely benign
rs1724921789	4:100,496,138	G/A	—	likely benign
rs2476074299	4:100,496,147	T/C	—	likely benign
rs17598226	4:100,496,891	C/T	—	—
rs11947558	4:100,497,578	C/T	intron variant	—
rs28435607	4:100,499,336	A/C	intron variant	—
rs28376611	4:100,499,973	G/A	intron variant	—
rs28595160	4:100,502,822	G/T	—	benign
rs771854071	4:100,503,044	G/A	—	likely benign
rs760424192	4:100,503,049	T/C	—	likely benign
rs776498091	4:100,503,057	T/A	—	uncertain significance
rs1235583687	4:100,503,060	A/G	—	pathogenic
rs759200881	4:100,503,064	C/T	—	uncertain significance
rs752100893	4:100,503,070	A/G	—	uncertain significance
rs890665382	4:100,503,073	G/A	—	uncertain significance
rs762413666	4:100,503,074	G/A	—	uncertain significance
rs2476086636	4:100,503,078	C/G	—	likely benign
rs2110211759	4:100,503,083	T/G	—	pathogenic
rs1190372517	4:100,503,091	G/A	—	uncertain significance
rs199537553	4:100,503,095	G/A	—	benign
rs762392573	4:100,503,096	G/A	—	likely benign
rs1481131314	4:100,503,099	G/A	—	likely benign
rs2476086715	4:100,503,102	C/T	—	likely benign
rs371307089	4:100,503,110	C/T	—	uncertain significance
rs147921439	4:100,503,111	G/A	—	conflicting classifications of pathogenicity
rs956227338	4:100,503,114	C/A	—	likely pathogenic
rs756998920	4:100,503,124	G/A	—	conflicting classifications of pathogenicity
rs2476086795	4:100,503,126	T/A	—	likely benign
rs779068565	4:100,503,130	C/G	—	uncertain significance
rs1725128681	4:100,503,132	T/G	—	likely benign
rs141736123	4:100,503,136	C/G	—	uncertain significance
rs777632344	4:100,503,137	G/A	—	uncertain significance
rs1277102208	4:100,503,141	C/A	—	likely benign
rs145545828	4:100,503,146	G/A	—	uncertain significance
rs1725129695	4:100,503,150	A/G	—	likely benign
rs2110211827	4:100,503,151	C/T	—	likely benign
rs72681995	4:100,503,159	C/A	—	uncertain significance
rs769291215	4:100,503,162	C/T	—	likely benign
rs369453726	4:100,503,163	G/A	—	uncertain significance
rs762420748	4:100,503,167	G/A	—	uncertain significance
rs750957280	4:100,503,168	C/T	—	likely benign
rs2476086913	4:100,503,171	C/G	—	pathogenic
rs761103347	4:100,503,172	C/T	—	uncertain significance
rs201464944	4:100,503,173	G/A	—	uncertain significance
rs1448636773	4:100,503,174	C/T	—	likely benign
rs1163995950	4:100,503,180	C/T	—	likely benign
rs755219735	4:100,503,185	A/C	—	uncertain significance
rs776338005	4:100,503,186	C/T	—	likely benign
rs2476086992	4:100,503,196	G/A	—	uncertain significance
rs376419753	4:100,503,204	A/G	—	likely benign
rs146493676	4:100,503,216	T/G	—	likely benign
rs1243210885	4:100,503,219	T/C	—	likely benign
rs2476087042	4:100,503,221	G/A	—	uncertain significance
rs2110211933	4:100,503,222	T/A	—	likely benign
rs747940830	4:100,503,228	T/C	—	likely benign
rs1210122454	4:100,503,235	T/G	—	uncertain significance
rs1725134518	4:100,503,236	T/G	—	uncertain significance
rs373651107	4:100,503,249	G/A	—	uncertain significance
rs2110211960	4:100,503,257	T/G	—	likely benign
rs2476087354	4:100,503,261	C/T	—	likely benign
rs1039196363	4:100,503,263	A/G	—	likely benign
rs1421888549	4:100,503,267	G/C	—	likely benign
rs2110211967	4:100,503,268	A/G	—	uncertain significance
rs17532601	4:100,503,272	A/G	—	likely benign
rs11937107	4:100,503,761	C/T	intron variant	—
rs77010227	4:100,504,441	T/C	—	benign
rs745789042	4:100,504,511	C/A	—	likely benign
rs755927871	4:100,504,521	G/C	—	likely benign

Showing 100 of 902 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.