Product Details

SNP ID
rs115825348
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:20664650 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTGGCCTTGGTGAAAGGGATGTC[A/G]AGGGACTCGAGGCGGAAGGGCCGGG
Phenotype
MIM: 602202 MIM: 605037
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DDOST PubMed Links

Gene Details

Gene
DDOST
Gene Name
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
There are no transcripts associated with this gene.

Gene
KIF17
Gene Name
kinesin family member 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122819.2 3332 Silent Mutation CTC,CTT L1007L NP_001116291.1
NM_001287212.1 3332 Silent Mutation CTC,CTT L908L NP_001274141.1
NM_020816.3 3332 Silent Mutation CTC,CTT L1008L NP_065867.2
XM_005245950.3 3332 Intron XP_005246007.1
XM_005245951.3 3332 Intron XP_005246008.1
XM_011541837.1 3332 Missense Mutation TCG,TTG S1007L XP_011540139.1
XM_011541838.1 3332 Missense Mutation TCG,TTG S1006L XP_011540140.1
XM_011541839.2 3332 Silent Mutation CTC,CTT L1008L XP_011540141.1
XM_011541840.2 3332 Silent Mutation CTC,CTT L1007L XP_011540142.1
XM_011541841.2 3332 Missense Mutation TCG,TTG S1007L XP_011540143.1
XM_011541842.1 3332 Silent Mutation CTC,CTT L1008L XP_011540144.1
XM_011541843.1 3332 Intron XP_011540145.1
XM_011541844.2 3332 Intron XP_011540146.1
XM_011541845.2 3332 Intron XP_011540147.1
XM_011541846.2 3332 Missense Mutation TCG,TTG S907L XP_011540148.1
XM_011541847.2 3332 Missense Mutation TCG,TTG S533L XP_011540149.1

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