Product Details

SNP ID

rs6686449

Assay Type

Validated

NCBI dbSNP Submissions

46

Location

Chr.1:224190022 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCTTTTATGCCTTTCGACCTCTGTT[T/C]ATCAACCCCAAACCAATTACGTATC

Phenotype

MIM: 615843

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

DEGS1 PubMed Links

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	657	Silent Mutation	TTC,TTT	F176F	NP_001308470.1
NM_001321542.1	657	Silent Mutation	TTC,TTT	F140F	NP_001308471.1
NM_003676.3	657	Silent Mutation	TTC,TTT	F176F	NP_003667.1
XM_017002648.1	657	Silent Mutation	TTC,TTT	F140F	XP_016858137.1

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