Variant: rs35333334 

    present in Gene: GNPTAB;CHPT1
    present in Chromosome: 12
    Position on Chromosome: 101749181
    Alleles of this Variant: G/A;T

rs35333334 in GNPTAB;CHPT1 gene and MUCOLIPIDOSIS II ALPHA/BETA (disorder) PMID 16465621 2006 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.

PMID 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

PMID 27662472 2019 Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.

rs35333334 in GNPTAB;CHPT1 gene and Pseudo-Hurler Polydystrophy PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

PMID 27662472 2019 Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.

PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 16465621 2006 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.

PMID 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.