Product Details

SNP ID

rs2236317

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:100146756 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAATGGCCACCACCAGGAGGCAGCC[C/T]GGGCTCACAGACCATCTTTTGCCAG

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	1065	UTR 3			NP_996801.2
XM_006720043.3	1065	UTR 3			XP_006720106.1

Gene

EVL

Gene Name

Enah/Vasp-like

There are no transcripts associated with this gene.

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