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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;
 
 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
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
Mini-G

 Repeat  Repeat mask viewer
Type Start End Strand
AluSx 1089 1245 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer