IKMB: Blood Group DB

Blood Groups - Gene

Kidd > SLC14A1

Genetic changes

Quick Filter:
	nt change	aa change	Location	hg19	hg38	rsNum
	c.1_341del		Exon 3-4	chr18:43310286	chr18:45730321
	c.27_50delAGTGGACAGCCCCACTATGGTTAG		Exon 3	chr18:43310312	chr18:45730347
	c.27_50del	p.Val10_Arg17del	Exon 3	chr18:43310312	chr18:45730347
	c.28G>A	p.Val10Met	Exon 3	chr18:43310313	chr18:45730348	rs113578396
	c.118G>A	p.Gly40Ser	Exon 3	chr18:43310403	chr18:45730438	rs145283450
	c.130G>A	p.Glu44Lys	Exon 3	chr18:43310415	chr18:45730450	rs2298720
	c.134T>C	p.Leu45Pro	Exon 3	chr18:43310419	chr18:45730454	rs537028614
	c.157_166del	p.Pro53Serfs77	Exon 4	chr18:43310985	chr18:45731020
	c.190C>T	p.Arg64Trp	Exon 4	chr18:43311018	chr18:45731053	rs552191196
	c.191G>A	p.Arg64Gln	Exon 4	chr18:43311019	chr18:45731054	rs114362217
	c.194G>A	p.Gly65Asp	Exon 4	chr18:43311022	chr18:45731057	rs778150490
	c.202C>T	p.Gln68Ter	Exon 4	chr18:43311030	chr18:45731065	rs142529927
	c.220A>G	p.Asn74Asp	Exon 4	chr18:43311048	chr18:45731083
	c.222C>A	p.Asn74Lys	Exon 4	chr18:43311050	chr18:45731085	rs749037771
	c.226G>A	p.Val76Ile	Exon 4	chr18:43311054	chr18:45731089	rs113029149
	c.277G>A	p.Ala93Thr	Exon 4	chr18:43311105	chr18:45731140
	c.303G>A	p.Val101Val	Exon 4	chr18:43311131	chr18:45731166	rs28994287
	c.327delG	*p.Leu109Phefs8**	Exon 4	chr18:43311155	chr18:45731190
	c.342-1G>A	p.Arg114Ter	Intron 4	chr18:43314238	chr18:45734273	rs78937798
	c.342-1G>C		Intron 4	chr18:43314238	chr18:45734273	rs78937798
	c.350T>C	p.Ile117Thr	Exon 5	chr18:43314247	chr18:45734282	rs374022751
	c.432G>A	p.Gly298Glu	Exon 5	chr18:43314329	chr18:45734364
	c.437T>C	p.Leu146Pro	Exon 5	chr18:43314334	chr18:45734369
	c.486T>A	p.Ser162Arg	Exon 6	chr18:43316436	chr18:45736471	rs753809770
	c.499A>G	p.Met167Val	Exon 6	chr18:43316449	chr18:45736484	rs2298719
	c.511T>C	p.Trp171Arg	Exon 6	chr18:43316461	chr18:45736496	rs9948825
	c.512G>A	p.Trp171Ter	Exon 6	chr18:43316462	chr18:45736497
	c.516_530del	p.Val175_Pro179	Exon 6	chr18:43316466	chr18:45736501	rs772726215
	c.536C>G	p.Pro179Arg	Exon 6	chr18:43316486	chr18:45736521	rs201612170
	c.548C>T	p.Ala183Val	Exon 6	chr18:43316498	chr18:45736533	rs367901541
	c.561C>A	p.Tyr187Ter	Exon 6	chr18:43316511	chr18:45736546	rs778172038
	c.582C>G	p.Tyr194Ter	Exon 6	chr18:43316532	chr18:45736567	rs34756616
	c.588A>G	p.Pro196Pro	Exon 6	chr18:43316538	chr18:45736573	rs2298718
	c.647_648delAC	*p.Asp216Alafs21**	Exon 6	chr18:43316597	chr18:45736632	rs1223735153
	c.663+1G>T	*p.Leu222Valfs46**	Intron 6	chr18:43316614	chr18:45736649	rs77744921
	c.718T>A	p.Trp240Arg	Exon 7	chr18:43319182	chr18:45739217	rs760579000
	c.719G>A	p.Trp240Ter	Exon 7	chr18:43319183	chr18:45739218
	c.723delA	*p.Gly243Alafs20**	Exon 7	chr18:43319187	chr18:45739222	rs759505281
	c.742G>A	p.Ala248Thr	Exon 7	chr18:43319206	chr18:45739241	rs763095261
	c.757_759delTCC	p.Ser253del	Exon 7	chr18:43319221	chr18:45739256
	c.810G>A	p.Ala270Ala	Exon 7	chr18:43319274	chr18:45739309	rs17675299
	c.811+5G>A	*p.Leu272Glufs29**	Intron 7	chr18:43319280	chr18:45739315	rs1414947682
	c.814C>T	p.Leu272Phe	Exon 8	chr18:43319495	chr18:45739530	rs757895930
	c.838A>G	p.Asp280Asn	Exon 8	chr18:43319519	chr18:45739554	rs1058396
	c.856delT	*p.Trp286Glyfs67**	Exon 9	chr18:43319537	chr18:45739572	rs1444093504
	c.866A>G	p.Asn289Ser	Exon 8	chr18:43319547	chr18:45739582
	c.871T>C	p.Ser291Pro	Exon 8	chr18:43319552	chr18:45739587	rs78242949
	c.893G>A	p.Gly298Glu	Exon 9	chr18:43319574	chr18:45739609
	c.896G>A	p.Gly299Glu	Exon 8	chr18:43319577	chr18:45739612	rs538368217
	c.956C>T	p.Thr319Met	Exon 9	chr18:43328350	chr18:45748385	rs565898944
	c.998T>A	p.VAl333Asp	Exon 10	chr18:43329744	chr18:45749779	rs774982134
	c.1038delG	*p.Leu347Tyrfs6**	Exon 10	chr18:43329784	chr18:45749819	rs746265611
	c.1095T>C	p.Ser365Ser	Exon 10	chr18:43329841	chr18:45749876	rs28898897
	c.1068insA	*p.Asp356Lysfs11**	Exon 10	chr18:None	chr18:None
	c.160insC	*p.Val54Argfs7**	Exon 4	chr18:None	chr18:None	rs377124382

solute carrier family 14 member 1

Chromosome:

chr18

Strand:

+

Genomic ref.:

Transcript ref.:

Protein ref.:

NP_001122060.3 NP_001139508.2 NP_001139509.1 NP_056949.4

Entrez GeneID:

Uniprot ID:

Further links:

GTEx Portal, gnomAD

hg19:

Exons	Start	End	CDS Start	CDS End
10	43304091	43332485	43310285	43329916

hg38:

Exons	Start	End	CDS Start	CDS End
10	45724180	45752520	45730320	45749951

Exon	hg19 start	hg19 end	hg38 start	hg38 end
1	43304145	43304238	45724180	45724273
10	43329742	43332485	45749777	45752520
2	43304914	43304978	45724949	45725013
3	43310264	43310436	45730299	45730471
4	43310979	43311169	45731014	45731204
5	43314238	43314367	45734273	45734402
6	43316420	43316613	45736455	45736648
7	43319127	43319275	45739162	45739310
8	43319492	43319627	45739527	45739662
9	43328340	43328390	45748375	45748425