Product Details

SNP ID

rs149655237

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:20666331 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCATGAGCCTGTAGCGGTCGTCCT[C/T]CTGCCGAGATGCAGATGCCCGTGGT

Phenotype

MIM: 602202 MIM: 605037

Polymorphism

C/T, 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	2854	Missense Mutation	AAG,GAG	K931E	NP_001116291.1
NM_001287212.1	2854	Missense Mutation	AAG,GAG	K832E	NP_001274141.1
NM_020816.3	2854	Missense Mutation	AAG,GAG	K932E	NP_065867.2
XM_005245950.3	2854	Missense Mutation	AAG,GAG	K932E	XP_005246007.1
XM_005245951.3	2854	Missense Mutation	AAG,GAG	K931E	XP_005246008.1
XM_011541837.1	2854	Nonsense Mutation	TGA,TGG	*930W	XP_011540139.1
XM_011541838.1	2854	Nonsense Mutation	TGA,TGG	*929W	XP_011540140.1
XM_011541839.2	2854	Missense Mutation	AAG,GAG	K932E	XP_011540141.1
XM_011541840.2	2854	Missense Mutation	AAG,GAG	K931E	XP_011540142.1
XM_011541841.2	2854	Nonsense Mutation	TGA,TGG	*930W	XP_011540143.1
XM_011541842.1	2854	Missense Mutation	AAG,GAG	K932E	XP_011540144.1
XM_011541843.1	2854	Nonsense Mutation	TGA,TGG	*930W	XP_011540145.1
XM_011541844.2	2854	Missense Mutation	AAG,GAG	K932E	XP_011540146.1
XM_011541845.2	2854	Nonsense Mutation	TGA,TGG	*930W	XP_011540147.1
XM_011541846.2	2854	Nonsense Mutation	TGA,TGG	*830W	XP_011540148.1
XM_011541847.2	2854	Nonsense Mutation	TGA,TGG	*456W	XP_011540149.1

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