IKMB: Blood Group DB

Blood Groups - Gene

RHAG > RHAG

Genetic changes

Quick Filter:
	nt change	aa change	Location	hg19	hg38	rsNum
	c.1034G>A	p.Gly345Asp	Exon 7	chr6:None	chr6:49611057
	c.1063A>C	p.Asn355His	Exon 7	chr6:None	chr6:49611028	rs1187324502
	c.3G>T	p.Arg2_Met8del	Exon 1	chr6:49604523	chr6:49636810	rs121918588
	c.12delA	p.Phe5fs	Exon 1	chr6:49604514	chr6:49636801
	c.154_157delCCTCinsGA	*p.Pro52Aspfs57**	Exon 1	chr6:49604369	chr6:49636656	rs387906519
	c.157+1G>A		Intron 1	chr6:49604368	chr6:49636655	rs375508949
	c.182T>G	p.Ile61Arg	Exon 2	chr6:49587051	chr6:49619338	rs863225469
	c.194T>C	p.Phe65Ser	Exon 2	chr6:49587039	chr6:49619326	rs863225468
	c.236G>A	p.Ser79Asn	Exon 2	chr6:49586997	chr6:49619284	rs121918586
	c.241G>C		Exon 2	chr6:49586992	chr6:49619279
	c.269G>T	p.Gly90Val	Exon 2	chr6:49586964	chr6:49619251
	c.310C>T	p.Gln104*	Exon 2	chr6:49586923	chr6:49619210	rs1240511011
	c.316C>G	p.Gln106Glu	Exon 2	chr6:49586917	chr6:49619204	rs1180686517
	c.353C>A	p.Ala118Glu	Exon 3	chr6:49585920	chr6:49618207
	c.398T>C	p.Leu133Pro	Exon 3	chr6:49585875	chr6:49618162
	c.490A>C	p.Lys164Gln	Exon 3	chr6:49585783	chr6:49618070	rs144305805
	c.514A>G	p.Met172Val	Exon 4	chr6:49583463	chr6:49615750	rs759281201
	c.532delG	p.178Glyfs185	Exon 4	chr6:49583445	chr6:49615732
	c.540C>A	p.Tyr180*	Exon 4	chr6:49583437	chr6:49615724
	c.543delT	*p.Phe181Leufs5**	Exon 4	chr6:49583434	chr6:49615721
	c.560G>A	p.Gly187Asp	Exon 4	chr6:49583417	chr6:49615704
	c.571C>T	p.Arg191*	Exon 4	chr6:49583406	chr6:49615693	rs758540029
	c.572G>A	p.Arg191Gln	Exon 4	chr6:49583405	chr6:49615692	rs550840907
	c.640+3del14		Intron 4	chr6:49583334	chr6:49615621
	c.672C>A	p.Ser224Arg	Exon 5	chr6:49582535	chr6:49614822
	c.680C>T	p.Ser227Leu	Exon 5	chr6:49582527	chr6:49614814	rs902283342
	c.707A>C	p.Gln236Arg	Exon 5	chr6:49582500	chr6:49614787	rs777825752
	c.790C>T	p.Arg264*	Exon 5	chr6:49582417	chr6:49614704	rs1397420527
	c.808G>A	p.Val270Ile	Exon 6	chr6:49580247	chr6:49612534	rs16879498
	c.836G>A	p.Gly279Glu	Exon 6	chr6:49580219	chr6:49612506	rs121918587
	c.838G>A	p.Gly280Arg	Exon 6	chr6:49580217	chr6:49612504	rs104893987
	c.920C>T	p.Ser307Phe	Exon 6	chr6:49580135	chr6:49612422
	c.945+1G>A		Intron 6	chr6:49580109	chr6:49612396
	c.946-2A>G		Intron 6	chr6:49578860	chr6:49611147	rs754264275
	c.946-1G>T		Intron 6	chr6:49578859	chr6:49611146
	c.946-1G>A		Intron 6	chr6:49578859	chr6:49611146
	c.1003G>A	p.Gly335Ser	Exon 7	chr6:49578801	chr6:49611088	rs976240588
	c.1067+1G>A		Intron 7	chr6:49578736	chr6:49611023
	c.1086delA	*p.Ala363Leufs15**	Exon 8	chr6:49574915	chr6:49607202
	c.1094T>G	p.Leu365Arg	Exon 8	chr6:49574907	chr6:49607194
	c.1139G>T	p.Gly380Val	Exon 9	chr6:49574634	chr6:49606921	rs121918589
	c.1183delA	*p.Asn395Thrfs68**	Exon 9	chr6:49574590	chr6:49606877	rs1201554355
	c.1195G>T	p.Asp399Tyr	Exon 9	chr6:49574578	chr6:49606865

Ammonium transporter Rh type A (Erythrocyte membrane glycoprotein Rh50)

Chromosome:

chr6

Strand:

-

Genomic ref.:

Transcript ref.:

Protein ref.:

NP_000315.2

Entrez GeneID:

Uniprot ID:

Further links:

GTEx Portal, gnomAD

hg19:

Exons	Start	End	CDS Start	CDS End
10	49572889	49604587	49573525	49604525

hg38:

Exons	Start	End	CDS Start	CDS End
10	49605176	49636839	49605812	49636812

Exon	hg19 start	hg19 end	hg38 start	hg38 end
1	49604368	49604552	49636655	49636839
10	49572889	49573543	49605176	49605830
2	49586891	49587075	49619178	49619362
3	49585780	49585931	49618067	49618218
4	49583336	49583484	49615623	49615771
5	49582399	49582566	49614686	49614853
6	49580109	49580247	49612396	49612534
7	49578736	49578858	49611023	49611145
8	49574862	49574933	49607149	49607220
9	49574560	49574634	49606847	49606921