Product Details

SNP ID

rs112239017

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128949230 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGACTATTCTGCTTGGAAGGTCAG[C/T]TCTGAGAGAGCTGGTAAGTGGTGGT

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

There are no transcripts associated with this gene.

Gene

NUP188

Gene Name

nucleoporin 188

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015354.2	101	Missense Mutation	GCT,GTT	A25V	NP_056169.1

Gene

PHYHD1

Gene Name

phytanoyl-CoA dioxygenase domain containing 1

There are no transcripts associated with this gene.

View Full Product Details