Product Details

SNP ID
rs116714748
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119088353 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGGAGGTTTGTCAGAACAGTTA[C/T]GATGCTCACAGCATCACAAATTGGG
Phenotype
MIM: 191350 MIM: 601772 MIM: 609806 MIM: 608549
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DPAGT1 PubMed Links

Gene Details

Gene
DPAGT1
Gene Name
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
There are no transcripts associated with this gene.

Gene
H2AFX
Gene Name
H2A histone family member X
There are no transcripts associated with this gene.

Gene
HMBS
Gene Name
hydroxymethylbilane synthase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000190.3 Intron NP_000181.2
NM_001024382.1 Intron NP_001019553.1
NM_001258208.1 Intron NP_001245137.1
NM_001258209.1 Intron NP_001245138.1
XM_005271531.1 Intron XP_005271588.1
XM_005271532.1 Intron XP_005271589.1
XM_005271533.3 Intron XP_005271590.1
XM_011542796.1 Intron XP_011541098.1
XM_017017629.1 Intron XP_016873118.1
Gene
VPS11
Gene Name
VPS11, CORVET/HOPS core subunit
There are no transcripts associated with this gene.

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