Product Details

SNP ID

rs111686473

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127940853 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACATGCCATGTGGTCAGTTTGTGC[A/G]GTAAACAGGAAAAAAAAAAAACCTA

Phenotype

MIM: 603564 MIM: 610891 MIM: 612865

Polymorphism

A/G, 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

FAM102A

Gene Name

family with sequence similarity 102 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001035254.2	3372	UTR 3			NP_001030331.1
NM_203305.2	3372	UTR 3			NP_976050.1

Gene

PIP5KL1

Gene Name

phosphatidylinositol-4-phosphate 5-kinase like 1

There are no transcripts associated with this gene.

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