Product Details

SNP ID

rs144513583

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:100149209 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGGCAAAGATGGCCAGGTCGGCC[A/G]CCAGCTGCACCAGCGTGTTGAGCAC

Phenotype

MIM: 610862 MIM: 616912

Polymorphism

A/G, 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	672	Missense Mutation	GCG,GTG	A195V	NP_996801.2
XM_006720043.3	672	Missense Mutation	GCG,GTG	A159V	XP_006720106.1

Gene

EVL

Gene Name

Enah/Vasp-like

There are no transcripts associated with this gene.

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