ENST00000323699.9 DEGS1

Information
Transcript ID
ENST00000323699.9
Genome
hg19
Position
chr1:224,370,942-224,381,143
Strand
+
CDS length
972
Amino acid length
324
Gene symbol
DEGS1
Gene type
protein-coding
Gene description
delta 4-desaturase, sphingolipid 1
Gene Entrez Gene ID
8560
Variants

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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 224,370,942 224,371,120
2 224,377,279 224,378,021
3 224,380,034 224,381,143
CDS
Exon number Type Start Stop
1 CDS 224,371,039 224,371,120
2 CDS 224,377,279 224,378,021
3 CDS 224,380,034 224,380,180
Other genome
Genome Chromosome Start End Links
hg38 chr1 224,183,240 224,193,441 Link
CDS sequence
ATGGGGAGCCGCGTCTCGCGGGAAGACTTCGAGTGGGTCTACACCGACCAGCCGCACGCCGACCGGCGCCGGGAGATCCTGGCAAAGTATCCAGAGATAAAGTCCTTGATGAAACCTGATCCCAATTTGATATGGATTATAATTATGATGGTTCTCACCCAGTTGGGTGCATTTTACATAGTAAAAGACTTGGACTGGAAATGGGTCATATTTGGGGCCTATGCGTTTGGCAGTTGCATTAACCACTCAATGACTCTGGCTATTCATGAGATTGCCCACAATGCTGCCTTTGGCAACTGCAAAGCAATGTGGAATCGCTGGTTTGGAATGTTTGCTAATCTTCCTATTGGGATTCCATATTCAATTTCCTTTAAGAGGTATCACATGGATCATCATCGGTACCTTGGAGCTGATGGCGTCGATGTAGATATTCCTACCGATTTTGAGGGCTGGTTCTTCTGTACCGCTTTCAGAAAGTTTATATGGGTTATTCTTCAGCCTCTCTTTTATGCCTTTCGACCTCTGTTCATCAACCCCAAACCAATTACGTATCTGGAAGTTATCAATACCGTGGCACAGGTCACTTTTGACATTTTAATTTATTACTTTTTGGGAATTAAATCCTTAGTCTACATGTTGGCAGCATCTTTACTTGGCCTGGGTTTGCACCCAATTTCTGGACATTTTATAGCTGAGCATTACATGTTCTTAAAGGGTCATGAAACTTACTCATATTATGGGCCTCTGAATTTACTTACCTTCAATGTGGGTTATCATAATGAACATCATGATTTCCCCAACATTCCTGGAAAAAGTCTTCCACTGGTGAGGAAAATAGCAGCTGAATACTATGACAACCTCCCTCACTACAATTCCTGGATAAAAGTACTGTATGATTTTGTGATGGATGATACAATAAGTCCCTACTCAAGAATGAAGAGGCACCAAAAAGGAGAGATGGTGCTGGAGTAA
Amino sequence
MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDFVMDDTISPYSRMKRHQKGEMVLE*