GLOB > B3GALNT1
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: |
|
||||||||||||||||||||||||||||||
hg38: |
|
||||||||||||||||||||||||||||||
|