Product Details

SNP ID
rs150532554
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119097024 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGACATCATAGAAGAGTCGAACGA[A/G]CTGATATCGAATGGAGAAGGTGATG
Phenotype
MIM: 191350 MIM: 601772 MIM: 609806
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DPAGT1 PubMed Links

Gene Details

Gene
DPAGT1
Gene Name
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001382.3 1839 Missense Mutation CTC,TTC L401F NP_001373.2
XM_005271422.2 1839 Missense Mutation CTC,TTC L427F XP_005271479.1
XM_011542648.1 1839 Missense Mutation CTC,TTC L320F XP_011540950.1
XM_017017293.1 1839 Missense Mutation CTC,TTC L294F XP_016872782.1
XM_017017294.1 1839 UTR 3 XP_016872783.1
XM_017017295.1 1839 Missense Mutation CTC,TTC L229F XP_016872784.1
Gene
H2AFX
Gene Name
H2A histone family member X
There are no transcripts associated with this gene.

Gene
HMBS
Gene Name
hydroxymethylbilane synthase
There are no transcripts associated with this gene.

View Full Product Details