ENST00000548974.1 ORMDL2

Information
Transcript ID
ENST00000548974.1
Genome
hg38
Position
chr12:55,818,330-55,820,513
Strand
+
CDS length
462
Amino acid length
154
Gene symbol
ORMDL2
Gene type
protein-coding
Gene description
ORMDL sphingolipid biosynthesis regulator 2
Gene Entrez Gene ID
29095
Variants

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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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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 55,818,330 55,818,419
2 55,818,999 55,819,173
3 55,819,342 55,819,493
4 55,820,260 55,820,513
CDS
Exon number Type Start Stop
2 CDS 55,819,000 55,819,173
3 CDS 55,819,342 55,819,493
4 CDS 55,820,260 55,820,395
Other genome
Genome Chromosome Start End Links
hg19 chr12 56,212,114 56,214,297 Link
CDS sequence
ATGAATGTGGGGGTGGCACACAGCGAAGTAAACCCCAACACCCGAGTGATGAATAGCCGAGGCATCTGGCTGGCCTACATCATCTTGGTAGGATTGCTGCATATGGTTCTACTCAGCATCCCCTTCTTCAGCATTCCTGTTGTCTGGACCCTGACCAACGTCATCCATAACCTGGCTACGTATGTCTTCCTTCATACGGTGAAAGGGACACCCTTTGAGACTCCTGACCAAGGAAAGGCTCGGCTACTGACACACTGGGAGCAAATGGACTATGGGCTCCAGTTTACCTCTTCCCGCAAGTTCCTCAGCATCTCTCCTATTGTGCTCTATCTCCTGGCCAGCTTCTATACCAAGTATGATGCTGCGCACTTCCTCATCAACACAGCCTCATTGCTAAGTGTACTGCTGCCGAAGTTGCCCCAGTTCCATGGGGTTCGTGTCTTTGGCATCAACAAATACTGA
Amino sequence
MNVGVAHSEVNPNTRVMNSRGIWLAYIILVGLLHMVLLSIPFFSIPVVWTLTNVIHNLATYVFLHTVKGTPFETPDQGKARLLTHWEQMDYGLQFTSSRKFLSISPIVLYLLASFYTKYDAAHFLINTASLLSVLLPKLPQFHGVRVFGINKY*