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rs281865038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs281865038(-;-)
Make rs281865038(-;TA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101753499
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865038
ebirs281865038
HLIrs281865038
Exacrs281865038
Varsomers281865038
Maprs281865038
PheGenIrs281865038
hapmaprs281865038
1000 genomesrs281865038
hgdprs281865038
ensemblrs281865038
gopubmedrs281865038
geneviewrs281865038
scholarrs281865038
googlers281865038
pharmgkbrs281865038
gwascentralrs281865038
openSNPrs281865038
23andMers281865038
23andMe allrs281865038
SNP Nexus

SNPshotrs281865038
SNPdbers281865038
MSV3drs281865038
GWAS Ctlgrs281865038
Max Magnitude0
ClinVar
Risk rs281865038(;)
Alt rs281865038(;)
Reference rs281865038(TA;TA)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102147277_102147278delTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002894.5,


[PMID 16116615] Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.