Product Details

SNP ID

rs191144864

Assay Type

Functionally Tested

NCBI dbSNP Submissions

13

Location

Chr.1:224190018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTCTTTTATGCCTTTCGACCTC[A/T]GTTCATCAACCCCAAACCAATTACG

Phenotype

MIM: 615843

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

DEGS1 PubMed Links

Additional Information

For this assay, SNP(s) [rs6686449] 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

DEGS1

Gene Name

delta 4-desaturase, sphingolipid 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321541.1	653	Missense Mutation	CAG,CTG	Q175L	NP_001308470.1
NM_001321542.1	653	Missense Mutation	CAG,CTG	Q139L	NP_001308471.1
NM_003676.3	653	Missense Mutation	CAG,CTG	Q175L	NP_003667.1
XM_017002648.1	653	Missense Mutation	CAG,CTG	Q139L	XP_016858137.1

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