Product Details

SNP ID

rs202019341

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:100146882 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTGGTGCTGCGGCAGGTGGTCG[C/T]AGTACTCGGGCGCGATCTTCCGCAC

Phenotype

MIM: 610862 MIM: 616912

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DEGS2 PubMed Links

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	939	Missense Mutation	TAC,TGC	Y284C	NP_996801.2
XM_006720043.3	939	Missense Mutation	TAC,TGC	Y248C	XP_006720106.1

Gene

EVL

Gene Name

Enah/Vasp-like

There are no transcripts associated with this gene.

View Full Product Details