Product Details

SNP ID

rs150479537

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:20664739 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTTGTTGCTGAGTGGGCAGCTGA[A/G]GCCTGGTGGCGAGTTGTGATGTGCT

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	3243	Missense Mutation	CTC,TTC	L978F	NP_001116291.1
NM_001287212.1	3243	Missense Mutation	CTC,TTC	L879F	NP_001274141.1
NM_020816.3	3243	Missense Mutation	CTC,TTC	L979F	NP_065867.2
XM_005245950.3	3243	Intron			XP_005246007.1
XM_005245951.3	3243	Intron			XP_005246008.1
XM_011541837.1	3243	Silent Mutation	GCC,GCT	A977A	XP_011540139.1
XM_011541838.1	3243	Silent Mutation	GCC,GCT	A976A	XP_011540140.1
XM_011541839.2	3243	Missense Mutation	CTC,TTC	L979F	XP_011540141.1
XM_011541840.2	3243	Missense Mutation	CTC,TTC	L978F	XP_011540142.1
XM_011541841.2	3243	Silent Mutation	GCC,GCT	A977A	XP_011540143.1
XM_011541842.1	3243	Missense Mutation	CTC,TTC	L979F	XP_011540144.1
XM_011541843.1	3243	Intron			XP_011540145.1
XM_011541844.2	3243	Intron			XP_011540146.1
XM_011541845.2	3243	Intron			XP_011540147.1
XM_011541846.2	3243	Silent Mutation	GCC,GCT	A877A	XP_011540148.1
XM_011541847.2	3243	Silent Mutation	GCC,GCT	A503A	XP_011540149.1

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