A4GALT

alpha 1,4-galactosyltransferase (P1PK blood group)

Summary

The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Known Variants101 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs147715374	22:43,088,902	G/A	—	likely benign
rs756438317	22:43,088,936	T/C	—	uncertain significance
rs771082385	22:43,088,940	G/A	—	uncertain significance
rs150217735	22:43,088,963	G/A	—	uncertain significance
rs9623659	22:43,088,971	C/T	—	benign
rs201063982	22:43,088,972	G/A	—	uncertain significance
rs756022687	22:43,088,987	G/A	—	uncertain significance
rs566302617	22:43,089,001	C/G	—	uncertain significance
rs148931002	22:43,089,022	A/G	—	likely benign
rs138153636	22:43,089,044	G/A	—	uncertain significance
rs1416492437	22:43,089,052	C/G	—	uncertain significance
rs6002904	22:43,089,055	C/G	—	benign
rs200414851	22:43,089,066	C/A	—	likely benign
rs577646955	22:43,089,143	G/T	—	uncertain significance
rs989084197	22:43,089,154	G/C	—	likely benign
rs775125442	22:43,089,160	G/C	—	uncertain significance
rs74315454	22:43,089,175	C/T	stop gained	affects
rs2146948555	22:43,089,182	T/C	—	uncertain significance
rs1465524001	22:43,089,191	C/T	—	uncertain significance
rs756476441	22:43,089,199	C/T	—	likely benign
rs28940571	22:43,089,206	G/A	missense variant	uncertain significance
rs766552140	22:43,089,255	G/A	—	uncertain significance
rs150748224	22:43,089,288	C/T	—	uncertain significance
rs28915384	22:43,089,289	G/A	—	benign
rs374580731	22:43,089,302	G/A	—	uncertain significance
rs1000201351	22:43,089,306	C/T	—	uncertain significance
rs1033003135	22:43,089,318	A/T	—	uncertain significance
rs397514502	22:43,089,327	G/C	missense variant	pathogenic
rs770694629	22:43,089,330	T/G	—	uncertain significance
rs779713387	22:43,089,338	A/C	—	uncertain significance
rs1454839506	22:43,089,371	A/G	—	uncertain significance
rs780577926	22:43,089,380	G/A	—	uncertain significance
rs28940572	22:43,089,398	C/T	missense variant	affects
rs749195557	22:43,089,399	C/T	—	uncertain significance
rs139550090	22:43,089,400	G/C	—	uncertain significance
rs74315453	22:43,089,410	A/T	missense variant	affects
rs201965177	22:43,089,433	G/A	—	likely benign
rs576019459	22:43,089,442	G/A	—	likely benign
rs1930639366	22:43,089,445	C/T	—	likely benign
rs1217273984	22:43,089,455	G/A	—	uncertain significance
rs145649275	22:43,089,464	C/T	—	likely benign
rs28915383	22:43,089,470	T/C	—	benign
rs768921574	22:43,089,480	C/A	—	uncertain significance
rs1395276793	22:43,089,502	G/A	—	likely benign
rs766624269	22:43,089,507	G/A	—	uncertain significance
rs28915382	22:43,089,517	C/T	—	benign
rs550617900	22:43,089,518	C/T	—	likely benign
rs776140143	22:43,089,583	G/A	—	likely benign
rs114722809	22:43,089,591	A/G	—	benign
rs781617781	22:43,089,624	C/T	—	uncertain significance
rs370246921	22:43,089,630	C/T	—	uncertain significance
rs756287846	22:43,089,631	G/A	—	likely benign
rs377301330	22:43,089,652	G/C	—	likely benign
rs771275936	22:43,089,654	C/T	—	uncertain significance
rs28915381	22:43,089,658	C/G	—	benign
rs776304817	22:43,089,659	G/A	—	uncertain significance
rs761366235	22:43,089,667	C/T	—	likely benign
rs1276227550	22:43,089,689	G/T	—	uncertain significance
rs1601979086	22:43,089,694	G/A	—	likely benign
rs775817348	22:43,089,711	C/G	—	uncertain significance
rs1245466396	22:43,089,737	G/T	—	uncertain significance
rs144889067	22:43,089,753	G/A	—	uncertain significance
rs138624393	22:43,089,755	G/A	—	uncertain significance
rs777334173	22:43,089,810	C/T	—	uncertain significance
rs148881382	22:43,089,833	A/G	—	uncertain significance
rs11541159	22:43,089,849	T/C	—	benign
rs186054814	22:43,089,858	C/T	—	benign
rs143504416	22:43,089,865	C/T	—	likely benign
rs780487343	22:43,089,879	C/T	—	uncertain significance
rs1930715472	22:43,089,886	G/A	—	likely benign
rs374847765	22:43,089,904	C/T	—	likely benign
rs1930719359	22:43,089,912	G/A	—	uncertain significance
rs1223357094	22:43,089,914	G/C	—	uncertain significance
rs778598915	22:43,089,916	G/A	—	likely benign
rs367569847	22:43,089,917	C/G	—	uncertain significance
rs564938247	22:43,089,930	G/A	—	uncertain significance
rs753066386	22:43,089,948	G/A	—	uncertain significance
rs3788595	22:43,090,276	T/A	intron variant	—
rs78018648	22:43,092,004	C/T	upstream gene variant	—
rs41277501	22:43,093,189	T/A	upstream gene variant	—
rs12628541	22:43,093,698	A/G	regulatory region variant	—
rs3761467	22:43,094,085	T/C	regulatory region variant	—
rs12628919	22:43,094,736	G/T	—	—
rs28916570	22:43,094,932	T/G	upstream gene variant	—
rs28916569	22:43,094,945	G/A	—	—
rs60422751	22:43,095,255	G/C	upstream gene variant	—
rs6002913	22:43,098,365	C/G	—	—
rs6002915	22:43,102,090	G/A	intron variant	—
rs5758888	22:43,107,689	C/G	regulatory region variant	—
rs5758889	22:43,109,743	A/G	intron variant	—
rs8139674	22:43,109,839	C/A	intron variant	—
rs5758893	22:43,110,736	T/C	intron variant	—
rs73174952	22:43,111,733	A/T	intron variant	—
rs1883991	22:43,112,818	C/G	—	—
rs738527	22:43,112,961	T/G	—	—
rs5751348	22:43,113,793	C/A	intron variant	—
rs2143918	22:43,114,020	A/C	intron variant	—
rs13056962	22:43,114,471	A/C	intron variant	—
rs9611845	22:43,116,137	G/A	—	—
rs28908470	22:43,116,277	C/T	regulatory region variant	—

Showing 100 of 101 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.