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Blood Groups - Gene

Augustine > SLC29A1

Genetic changes

Quick Filter: All aa change hg19 hg38 Location nt changes rsNum
	nt change	aa change	Location	hg19	hg38	rsNum
	c.242A>G	p.Asn81Ser	Exon 4	chr6:44197330	chr6:44229593	rs72555353
	c.589+1G>C	p.Ser197fs	Intron 6-7	chr6:44198093	chr6:44230356
	c.1159A>C	p.Thr387Pro	Exon 12	chr6:44200139	chr6:44232402	rs1131690802
	c.1171G>A	p.Glu391Lys	Exon 12	chr6:44200151	chr6:44232414	rs45458701

solute carrier family 29 member 1
Chromosome:	chr6
Strand:	+
Genomic ref.:	NG_042893.1
Transcript ref.:	NM_001304463.1
Protein ref.:	NP_001071643.1 NP_001071645.1 NP_001291391.1 NP_001291392.1 NP_001291394.1 NP_001291395.1 XP_005248935.1 XP_005248936.1 XP_005248937.1 XP_005248938.1
Entrez GeneID:	2030
Uniprot ID:	Q99808
Further links:	GTEx Portal, gnomAD
hg19:	Exons Start End CDS Start CDS End None 44191240 44201888 None None
hg38:	Exons Start End CDS Start CDS End None None None None None
Exon hg19 start hg19 end hg38 start hg38 end