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IKMB: Blood Group DB

GLOB > B3GALNT1

Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.202C>T p.Arg68Ter Exon 5 chr3:160804341 chr3:161086553 rs200235398
c.203delG p.Arg68Glnfs*17 Exon 5 chr3:160804340 chr3:161086552 rs748945246
c.292_293insA p.Arg98Lysfs*6 Exon 5 chr3:160804250 chr3:161086462
c.376G>A p.Asp126Asn Exon 5 chr3:160804167 chr3:161086379 rs2231257
c.420T>G p.Tyr140Ter Exon 5 chr3:160804123 chr3:161086335
c.433C>T p.Arg145Ter Exon 5 chr3:160804110 chr3:161086322 rs755471824
c.449A>G p.Asp150Gly Exon 5 chr3:160804094 chr3:161086306
c.456T>G p.Tyr152Ter Exon 5 chr3:160804087 chr3:161086299 rs375737673
c.537_538insA p.Asp180Argfs*3 Exon 5 chr3:160804005 chr3:161086217 rs751995528
c.598delT p.Ser200Glnfs*10 Exon 5 chr3:160803945 chr3:161086157
c.648A>C p.Arg216Ser Exon 5 chr3:160803895 chr3:161086107
c.797A>C p.Glu266Ala Exon 5 chr3:160803746 chr3:161085958 rs28937582
c.811G>A p.Gly271Arg Exon 5 chr3:160803732 chr3:161085944 rs104893683
c.959G>A p.Trp320Ter Exon 5 chr3:160803584 chr3:161085796 rs1458558563

beta-1,3-N-acetylgalactosaminyltransferase 1
Chromosome:chr3
Strand:-
Genomic ref.:NG_007854.1
Transcript ref.:NM_033169.2
Protein ref.: NP_001033717.1 NP_003772.1 NP_149357.1 NP_149358.1 NP_149359.1 XP_005247916.1
Entrez GeneID:8706
Uniprot ID:O75752
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
5 160801670 160822683 160803546 160804542
hg38:
ExonsStartEndCDS StartCDS End
5 161083882 161104895 161085758 161086754
Exon hg19 start hg19 end hg38 start hg38 end
1 160822572 160822683 161104784 161104895
2 160822106 160822194 161104318 161104406
3 160821214 160821305 161103426 161103517
4 160818926 160819021 161101138 161101233
5 160801670 160804576 161083882 161086788