IKMB: Blood Group DB

Blood Groups - Gene

Diego > SLC4A1

Genetic changes

Quick Filter:
	nt change	aa change	Location	hg19	hg38	rsNum
	c.1287A>T	p.Glu429Asp	Exon 12	chr17:42335171	chr17:44257803	rs1048804130
	c.1294C>T	p.Arg432Trp	Exon 12	chr17:42335164	chr17:44257796	rs373768879
	c.1438G>A	p.Glu480Lys	Exon 13	chr17:42334906	chr17:44257538	rs121912756
	c.1447G>A	p.Gly483Ser	Exon 13	chr17:42334897	chr17:44257529	rs544557335
	c.1462G>A	p.Val488Met	Exon 13	chr17:42334882	chr17:44257514	rs28931584
	c.1643C>T	p.Pro548Leu	Exon 14	chr17:42333198	chr17:44255830	rs879202054
	c.1653G>C	p.Lys551Asn	Exon 14	chr17:42333188	chr17:44255820
	c.1655C>T	p.Thr552Ile	Exon 14	chr17:42333186	chr17:44255818
	c.1663T>C	p.Tyr555His	Exon 14	chr17:42333178	chr17:44255810
	c.1669G>A	p.Val557Met	Exon 14	chr17:42333172	chr17:44255804	rs121912743
	c.1681C>G	p.Pro561Ala	Exon 14	chr17:42333160	chr17:44255792
	c.1681C>T	p.Pro561Ser	Exon 14	chr17:42333160	chr17:44255792
	c.1694G>C	p.Gly565Ala	Exon 14	chr17:42333147	chr17:44255779	rs551784583
	c.1696C>T	p.Pro566Ser	Exon 14	chr17:42333145	chr17:44255777	rs1393742050
	c.1696C>G	p.Pro566Ala	Exon 14	chr17:42333145	chr17:44255777	rs1393742050
	c.1707C>A	p.Asn569Lys	Exon 14	chr17:42333134	chr17:44255766
	c.1936C>T	p.Arg646Trp	Exon 16	chr17:42331985	chr17:44254617	rs121912758
	c.1937G>A	p.Arg646Gln	Exon 16	chr17:42331984	chr17:44254616	rs121912757
	c.1966C>T	p.Arg656Cys	Exon 16	chr17:42331955	chr17:44254587	rs372514760
	c.1967G>A	p.Arg656His	Exon 16	chr17:42331954	chr17:44254586	rs758868427
	c.1972G>A	p.Glu658Lys	Exon 16	chr17:42331949	chr17:44254581	rs75731670
	c.2561C>T	p.Pro854Leu	Exon 19	chr17:42328621	chr17:44251253	rs2285644

solute carrier family 4 member 1

Chromosome:

chr17

Strand:

-

Genomic ref.:

Transcript ref.:

Protein ref.:

NP_000333.1 XP_005257650.1

Entrez GeneID:

Uniprot ID:

Further links:

GTEx Portal, gnomAD

hg19:

Exons	Start	End	CDS Start	CDS End
20	42325757	42345502	42327825	42340234

hg38:

Exons	Start	End	CDS Start	CDS End
20	44248389	44268135	44250457	44262866

Exon	hg19 start	hg19 end	hg38 start	hg38 end
1	42345421	42345503	44268053	44268135
10	42335780	42335991	44258412	44258623
11	42335353	42335548	44257985	44258180
12	42335026	42335175	44257658	44257807
13	42334717	42334912	44257349	44257544
14	42333040	42333214	44255672	44255846
15	42332574	42332664	44255206	44255296
16	42331863	42332030	44254495	44254662
17	42330485	42330739	44253117	44253371
18	42328786	42328956	44251418	44251588
19	42328526	42328700	44251158	44251332
2	42340219	42340302	44262851	44262934
20	42325757	42327906	44248389	44250538
3	42340003	42340094	44262635	44262726
4	42338942	42339004	44261574	44261636
5	42338002	42338183	44260634	44260815
6	42337771	42337907	44260403	44260539
7	42337176	42337300	44259808	44259932
8	42336864	42336949	44259496	44259581
9	42336530	42336712	44259162	44259344