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IKMB: Blood Group DB

Sda > B4GALNT2

Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.1134+5G>A Intron 8 chr17:47241642 chr17:49164280 rs72835417
c.1307A>G p.Glu436Arg Exon 10 chr17:47246074 chr17:49168712 rs148441237
c.1396T>C p.Cys466Arg Exon 10 chr17:47246163 chr17:49168801 rs7224888
c.1567C>T p.Arg523Trp Exon 11 chr17:47246956 chr17:49169594 rs61743617

beta-1,4-N-acetyl-galactosaminyltransferase 2
Chromosome:chr17
Strand:+
Genomic ref.:None
Transcript ref.:NM_153446.3
Protein ref.: NP_001152859.1 NP_001152860.1 NP_703147.2 XP_016879662.1
Entrez GeneID:124872
Uniprot ID:Q8NHY0
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
11 47210130 47254200 47210387 47247090
hg38:
ExonsStartEndCDS StartCDS End
11 49132768 49176838 49133025 49169728
Exon hg19 start hg19 end hg38 start hg38 end
1 47210130 47210581 49132768 49133219
10 47246042 47246262 49168680 49168900
11 47246884 47254200 49169522 49176838
2 47218608 47218809 49141246 49141447
3 47219396 47219534 49142034 49142172
4 47230161 47230268 49152799 49152906
5 47233927 47233965 49156565 49156603
6 47236398 47236579 49159036 49159217
7 47237916 47238003 49160554 49160641
8 47241449 47241637 49164087 49164275
9 47243475 47243616 49166113 49166254