Product Details

SNP ID

rs189623590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128946021 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGCTCCTCCCAGGCTACCCTTC[C/T]GTGTGCAGGGTCTGGGGATCAGCCA

Phenotype

MIM: 610746 MIM: 615587

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DOLK PubMed Links

Gene Details

Gene

DOLK

Gene Name

dolichol kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014908.3	1713	Missense Mutation			NP_055723.1

Gene

NUP188

Gene Name

nucleoporin 188

There are no transcripts associated with this gene.

Gene

PHYHD1

Gene Name

phytanoyl-CoA dioxygenase domain containing 1

There are no transcripts associated with this gene.

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