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Blood Groups - Gene

EKLF > KLF1

Genetic changes

Quick Filter: All aa change hg19 hg38 Location nt changes rsNum
	nt change	aa change	Location	hg19	hg38	rsNum
	c.484_484insC	p.Lys162Glnfs*352	Exon 2	chr19:None	chr19:None	rs116107190
	c.902insT	p.Arg301Leufs*52	Exon 2	chr19:None	chr19:None
	c.551_556GGACCG>A	p.Gly184Glufs*167	Exon 2	chr19:None	chr19:None
	c.175insC	p.Pro59Profs*66	Exon 2	chr19:None	chr19:None
	c.1003A	p.Gly335Arg	Exon 3	chr19:None	chr19:None	rs750987930
	c.-124T>C		Promoter None	chr19:12998078	chr19:12887264
	c.56_74del	p.Pro19Leufs*29	Exon 1	chr19:12997881	chr19:12887067
	c.86A>G	p.Lys29Arg	Exon 1	chr19:12997869	chr19:12887055
	c.90G>A	p.Trp30*	Exon 1	chr19:12996954	chr19:12886140	rs1427628301
	c.109C>T	p.Gln37*	Exon 2	chr19:12996935	chr19:12886121	rs755193431
	c.114delC	p.Asp38Glufs*53	Exon 2	chr19:12996930	chr19:12886116
	c.151delC	p.Leu51Serfs*3	Exon 2	chr19:12996893	chr19:12886079
	c.196G>T	p.Glu66*	Exon 2	chr19:12996848	chr19:12886034
	c.199delA	p.Gly68Alafs*236	Exon 2	chr19:12996845	chr19:12886031
	c.204delC	p.Gly68Glyfs*169	Exon 2	chr19:12996840	chr19:12886026
	c.262_284dup	p.Ala95Alafs*150	Exon 2	chr19:12996760	chr19:12885946
	c.298G>T	p.Glu100*	Exon 2	chr19:12996746	chr19:12885932
	c.304T>C	p.Ser102Pro	Exon 2	chr19:12996740	chr19:12885926	rs2072597
	c.310_311insG	p.Ala104Glyfs*249	Exon 2	chr19:12996733	chr19:12885919
	c.318T>G	p.Tyr106*	Exon 2	chr19:12996726	chr19:12885912	rs956697155
	c.380T>A	p.Leu127*	Exon 2	chr19:12996664	chr19:12885850
	c.421C>T	p.Arg141*	Exon 2	chr19:12996623	chr19:12885809	rs1426116895
	c.472delG	p.Ala158Profs*79	Exon 2	chr19:12996572	chr19:12885758
	c.517_519delC	p.Pro173Profs*64	Exon 2	chr19:12996525	chr19:12885711	rs566095433
	c.519_520insC	p.Gly174Argfs*179	Exon 2	chr19:12996524	chr19:12885710
	c.519_525dupCGGCGCC	p.Gly176Argfs*179	Exon 2	chr19:12996519	chr19:12885705	rs483352838
	c.533C>A	p.Ser178*	Exon 2	chr19:12996511	chr19:12885697
	c.569delC	p.Pro190Leufs*47	Exon 2	chr19:12996475	chr19:12885661
	c.591C>G	p.Tyr197*	Exon 2	chr19:12996453	chr19:12885639
	c.604G>A	p.Gly202Arg	Exon 2	chr19:12996440	chr19:12885626	rs756658473
	c.621C>G	p.Tyr207*	Exon 2	chr19:12996423	chr19:12885609
	c.637C>T	p.Glu213*	Exon 2	chr19:12996407	chr19:12885593
	c.663delG	p.Leu222Serfs*15	Exon 2	chr19:12996381	chr19:12885567
	c.796C>T	p.Arg266*	Exon 2	chr19:12996248	chr19:12885434	rs756046932
	c.802C>T	p.Arg268*	Exon 2	chr19:12996242	chr19:12885428
	c.809C>A	p.Ser270*	Exon 2	chr19:12996235	chr19:12885421	rs558942739
	c.826C>T	p.Gln276*	Exon 2	chr19:12996218	chr19:12885404
	c.858C>A	p.Cys286*	Exon 2	chr19:12996186	chr19:12885372	rs778506653
	c.862A>G	p.Lys288Glu	Exon 2	chr19:12996182	chr19:12885368
	c.868T>C	p.Tyr290His	Exon 2	chr19:12996176	chr19:12885362
	c.874A>T	p.Lys292*	Exon 2	chr19:12996170	chr19:12885356	rs137852687
	c.887T>C	p.Leu296Pro	Exon 2	chr19:12996157	chr19:12885343	rs754996390
	c.892G>C	p.Ala298Pro	Exon 2	chr19:12996152	chr19:12885338	rs387907598
	c.895C>T	p.His299Tyr	Exon 2	chr19:12996149	chr19:12885335	rs137852688
	c.899T>C	p.Leu300Pro	Exon 2	chr19:12996145	chr19:12885331	rs763096758
	c.911C>A	p.Thr304Lys	Exon 2	chr19:12996133	chr19:12885319
	c.914-1G>C		Intron 2	chr19:12995875	chr19:12885061
	c.939G>A	p.Trp313*	Exon 3	chr19:12995849	chr19:12885035	rs1364414353
	c.947G>A	p.Cys316Tyr	Exon 3	chr19:12995841	chr19:12885027
	c.948delC	p.Cys316Trpfs*326	Exon 3	chr19:12995840	chr19:12885026
	c.954dupG	p.Arg319Glufs*34	Exon 3	chr19:12995834	chr19:12885020	rs397514445
	c.954G>C	p.Trp318Cys	Exon 3	chr19:12995834	chr19:12885020	rs769526751
	c.964C>A	p.Arg322Ser	Exon 3	chr19:12995824	chr19:12885010	rs376711350
	c.968C>G	p.Ser323Trp	Exon 3	chr19:12995820	chr19:12885006
	c.973G>A	p.Glu325Lys	Exon 3	chr19:12995815	chr19:12885001	rs267607201
	c.977T>G	p.Leu326Arg	Exon 3	chr19:12995811	chr19:12884997	rs397514634
	c.983G>A	p.Arg328His	Exon 3	chr19:12995805	chr19:12884991	rs140252918
	c.983G>T	p.Arg328Leu	Exon 3	chr19:12995805	chr19:12884991
	c.991C>T	p.Arg331Trp	Exon 3	chr19:12995797	chr19:12884983
	c.991C>G	p.Arg331Gly	Exon 3	chr19:12995797	chr19:12884983
	c.994A>G	p.Lys332Glu	Exon 3	chr19:12995794	chr19:12884980
	c.1001C>G	p.Thr334Arg	Exon 3	chr19:12995787	chr19:12884973	rs483352841
	c.1001C>T	p.Thr334Met	Exon 3	chr19:12995787	chr19:12884973	rs483352841
	c.1002delGT	p.Thr334Glyfs*351	Exon 3	chr19:12995786	chr19:12884972	rs764608850
	c.1004G>C	p.Gly335Ala	Exon 3	chr19:12995784	chr19:12884970
	c.1012C>T	p.Pro338Ser	Exon 3	chr19:12995776	chr19:12884962	rs387907599
	c.1022G>A	p.Cys341Tyr	Exon 3	chr19:12995766	chr19:12884952	rs483352839
	c.1040C>A	p.Ala347Asp	Exon 3	chr19:12995748	chr19:12884934
	c.1045delT	p.Ser349Argfs*358	Exon 3	chr19:12995743	chr19:12884929
	c.1048C>T	p.Arg350Cys	Exon 3	chr19:12995740	chr19:12884926	rs1321730417
	c.1071C>A	p.His357Gln	Exon 3	chr19:12995717	chr19:12884903

Kruppel like factor 1
Chromosome:	chr19
Strand:	-
Genomic ref.:	NG_013087.1
Transcript ref.:	NM_006563.3
Protein ref.:	NP_006554.1
Entrez GeneID:	10661
Uniprot ID:	Q13351
Further links:	GTEx Portal, gnomAD
hg19:	Exons Start End CDS Start CDS End 3 12995236 12998017 12995698 12997954
hg38:	Exons Start End CDS Start CDS End 3 12884422 12887201 12884884 12887140
Exon hg19 start hg19 end hg38 start hg38 end 1 12997867 12998015 12887053 12887201 2 12996130 12996956 12885316 12886142 3 12995235 12995874 12884422 12885060