{{Rsnum
|rsid=34940801
|Chromosome=12
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|position=101757571
}}{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000002901.2
|CLNALLE=1
|CLNDBN=I cell disease
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576
|CLNHGVS=NC_000012.11:g.102151349C>T
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1875; 607840.0012
|Disease=I cell disease
|FwdALT=A
|FwdREF=G
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
|REF=C
|RSPOS=102151349
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;HD;GNO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000502110100
|WGT=0
|dbSNPBuildID=126
|rsid=34940801
}}

{{PMID Auto
|PMID=16200072
|Title=Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
}}

{{PMID Auto
|PMID=16465621
|Title=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.
|OA=1
}}

{{on chip | HumanOmni1Quad}}