Product Details

SNP ID
rs201559606
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:5025522 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGCGCCCCCTGGCTGCTCCTTCT[C/G]TGCGGCCAGAGGCTCCCCGTTCATC
Phenotype
MIM: 607985
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
NAGPA PubMed Links

Gene Details

Gene
NAGPA
Gene Name
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016256.3 1447 Missense Mutation CAG,GAG Q502E NP_057340.2
XM_011522517.2 1447 Missense Mutation CAG,GAG Q474E XP_011520819.1
Gene
NAGPA-AS1
Gene Name
NAGPA antisense RNA 1
There are no transcripts associated with this gene.

Gene
SEC14L5
Gene Name
SEC14 like lipid binding 5
There are no transcripts associated with this gene.

View Full Product Details