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SNP ID

rs117634838

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:20652406 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCGGACTTCTCCTTCTCCTTCAT[A/G]TGCAAGAAGACGATGCTGAAGATGA

Phenotype

MIM: 602202 MIM: 605037 MIM: 608309

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005216.4	1487	Silent Mutation	CAC,CAT	H448H	NP_005207.2

Gene

KIF17

Gene Name

kinesin family member 17

There are no transcripts associated with this gene.

Gene

PINK1

Gene Name

PTEN induced putative kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032409.2	1487	Intron			NP_115785.1

Gene

PINK1-AS

Gene Name

PINK1 antisense RNA

There are no transcripts associated with this gene.

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