Gene entry
GCNT2
glucosaminyl (N-acetyl) transferase 2 (I blood group)
- Chromosome
- 6
- Cytoband
- 6p24.3-p24.2
- Variants (rsID)
- 192
GCNT2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p24.3-p24.2). Its official name is “glucosaminyl (N-acetyl) transferase 2 (I blood group)”. The reference table lists 192 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs12660274Benignsingle nucleotide variantI blood group system
- rs2230906Benignsingle nucleotide variantI blood group system|Cataract 13 with adult I phenotype
- rs35537333Benignsingle nucleotide variantI blood group system|Cataract 13 with adult I phenotype
- rs75648279Benignsingle nucleotide variantI blood group system
- rs17637756Conflicting interpretationssingle nucleotide variantI blood group system|Cataract 13 with adult I phenotype
- rs137853340Pathogenicsingle nucleotide variantADULT i BLOOD GROUP PHENOTYPE
- rs56141211Pathogenicsingle nucleotide variantCataract 13 with adult I phenotype
- rs138593604Uncertain significancesingle nucleotide variantI blood group system
- rs199770755Uncertain significancesingle nucleotide variantI blood group system
- rs55940927Uncertain significancesingle nucleotide variantCataract 13 with adult I phenotype
- rs539351Not classifiedmissense_variant
Other listed variants
- rs477199
- rs487689
- rs487757
- rs488532
- rs504083
- rs506720
- rs509227
- rs515969
- rs527168
- rs548283
- rs556617
- rs560194
- rs562777
- rs566298
- rs569693
- rs570645
- rs581151
- rs581944
- rs588051
- rs594495
- rs596145
- rs597152
- rs597697
- rs612889
- rs612959
- rs620929
- rs627730
- rs638867
- rs644108
- rs648038
- rs654334
- rs654360
- rs669331
- rs681047
- rs681282
- rs796024
- rs1226013
- rs1226066
- rs1318748
- rs2027359
- rs2169276
- rs3756948
- rs3798702
- rs3897809
- rs4449626
- rs4712775
- rs6456549
- rs6911448
- rs6913109
- rs6921510
- rs6939502
- rs7740437
- rs7741210
- rs7750473
- rs7764197
- rs7765411
- rs7767886
- rs7768043
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.