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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