Product Details

SNP ID: rs141670007
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:127925206 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGTAATCCAGCACGTTGAGCTCC[C/T]GGAGGAAGGTGGTATCCAGTTCCAT
Phenotype: MIM: 603564 MIM: 612865 MIM: 606378
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: DPM2 PubMed Links

Gene Details

Gene: DPM2
Gene Name: dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit

There are no transcripts associated with this gene.

Gene: PIP5KL1
Gene Name: phosphatidylinositol-4-phosphate 5-kinase like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135219.1	1911	Missense Mutation	CAG,CGG	Q273R	NP_001128691.1
NM_173492.1	1911	Missense Mutation	CAG,CGG	Q70R	NP_775763.1
XM_017014279.1	1911	Silent Mutation	CCA,CCG	P318P	XP_016869768.1

Gene: ST6GALNAC4
Gene Name: ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4

There are no transcripts associated with this gene.

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