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H-Invitational ID: HIT000061687 Accession number: AF002668 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Sphingolipid delta(4)-desaturase DES1; EC=1.14.-.-; Cell migration-inducing gene 15 protein; Degenerative spermatocyte homolog 1; Membrane lipid desaturase;

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Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 98 .. 98 C/A rs201220123 + CDS Nonsynonymous[Asp9Glu] 116 .. 116 C/A rs199893861 + CDS Synonymous[Thr15Thr] 156 .. 156 A/G rs202124477 + CDS Nonsynonymous[Lys29Glu] 172 .. 172 A/G rs147100470 + CDS Nonsynonymous[Lys34Arg] 264 .. 264 G/A rs138717762 + CDS Nonsynonymous[Asp65Asn] 362 .. 362 T/C rs142757271 + CDS Synonymous[Phe97Phe] 428 .. 428 A/G rs147284004 + CDS Synonymous[Pro119Pro] 527 .. 527 C/T rs139145685 + CDS Synonymous[Phe152Phe] 536 .. 536 C/T rs185497439 + CDS Synonymous[Thr155Thr] 554 .. 554 A/G rs188238679 + CDS Nonsynonymous[Ile161Met] 593 .. 593 T/C rs201046134 + CDS Synonymous[Pro174Pro] 595 .. 595 T/A rs191144864 + CDS Nonsynonymous[Leu175Gln] 599 .. 599 C/T rs6686449 + CDS Synonymous[Phe176Phe] 619 .. 619 C/T rs184105229 + CDS Nonsynonymous[Thr183Met] 642 .. 642 G/A rs188450448 + CDS Nonsynonymous[Val191Met] 712 .. 712 C/G rs142035782 + CDS Nonsynonymous[Ala214Gly] 770 .. 770 T/G rs144040007 + CDS Nonsynonymous[His233Gln] 779 .. 779 C/G rs146461576 + CDS Nonsynonymous[Phe236Leu] 796 .. 796 C/A rs3170979 + CDS Nonsynonymous[Thr242Asn] 834 .. 834 A/T rs74146330 + CDS Nonsynonymous[Asn255Tyr] 871 .. 871 A/G rs61732863 + CDS Nonsynonymous[Asn267Ser] 945 .. 945 T/A rs142379689 + CDS Nonsynonymous[Ser292Thr] 957 .. 957 G/C rs148333931 + CDS Nonsynonymous[Val296Leu] 1107 .. 1107 C/T rs193052126 + 3'UTR 1116 .. 1116 C/T rs112243303 + 3'UTR 1161 .. 1161 G/A rs183946356 + 3'UTR  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  Type Start End Strand AluSx 1089 1245 + Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;