Product Details

SNP ID

rs150661877

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:100149331 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGAGCAGCTTGCGGGCGGGTGT[A/G]CAGAAGAACCAGCCCTCCAGACGCG

Phenotype

MIM: 610862 MIM: 616912

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

DEGS2 PubMed Links

Additional Information

For this assay, SNP(s) [rs4905936] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

DEGS2

Gene Name

delta 4-desaturase, sphingolipid 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_206918.2	550	Silent Mutation	TGC,TGT	C154C	NP_996801.2
XM_006720043.3	550	Silent Mutation	TGC,TGT	C118C	XP_006720106.1

Gene

EVL

Gene Name

Enah/Vasp-like

There are no transcripts associated with this gene.

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