I > GCNT2
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nt change | aa change | Location | hg19 | hg38 | rsNum | ||||
c.243T>A | p.Asn81Lys | Exon 1C | chr6:10586465 | chr6:10586232 | rs201291494 | ||||
c.505G>A | p.Ala169Thr | Exon 1C | chr6:10586727 | chr6:10586494 | rs56106312 | ||||
c.651delA | p.Val219Cysfs*26 | Exon 1 | chr6:10586873 | chr6:10586640 | rs755005507 | ||||
c.683G>A | p.Arg228Gln | Exon 1C | chr6:10586905 | chr6:10586672 | rs755228157 | ||||
c.816G>C | p.Glu272Asp | Exon 1C | chr6:10587038 | chr6:10586805 | rs539351 | ||||
c.935G>A | p.Gly312Asp | Exon 2 | chr6:10621593 | chr6:10621360 | rs777441702 | ||||
c.984G>A | p.Trp328Ter | Exon 2 | chr6:10621642 | chr6:10621409 | rs1177742207 | ||||
c.1006G>A | p.Gly336Arg | Exon 2 | chr6:10621664 | chr6:10621431 | rs774740944 | ||||
c.1049G>A | p.Gly350Glu | Exon 3 | chr6:10626680 | chr6:10626447 | rs56141211 | ||||
c.1054G>A | p.Gly352Arg | Exon 3 | chr6:10626685 | chr6:10626452 | rs369770528 | ||||
c.1154G>A | p.Arg385His | Exon 3 | chr6:10626785 | chr6:10626552 | rs55940927 | ||||
c.1163_1166delATCA | p.Asn390Argfs*20 | Exon 3 | chr6:10626794 | chr6:10626561 | |||||
c.1184C>T | p.Ala395Val | Exon 3 | chr6:10626815 | chr6:10626582 | rs371217806 |
glucosaminyl (N-acetyl) transferase 2 | |||||||||||||||||||||
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Chromosome: | chr6 | ||||||||||||||||||||
Strand: | + | ||||||||||||||||||||
Genomic ref.: | NG_007469.3 | ||||||||||||||||||||
Transcript ref.: | NM_145655.3 | ||||||||||||||||||||
Protein ref.: | NP_001482.1 NP_663624.1 NP_663630.2 XP_006715115.1 | ||||||||||||||||||||
Entrez GeneID: | 2651 | ||||||||||||||||||||
Uniprot ID: | Q8N0V5 | ||||||||||||||||||||
Further links: | GTEx Portal, gnomAD | ||||||||||||||||||||
hg19: |
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hg38: |
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