ENST00000548356.1 SPRING1

Information
Transcript ID
ENST00000548356.1
Genome
hg38
Position
chr12:116,717,336-116,720,127
Strand
-
CDS length
141
Amino acid length
47
Gene symbol
SPRING1
Gene type
protein-coding
Gene description
SREBF pathway regulator in golgi 1
Gene Entrez Gene ID
79794
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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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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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
2 116,717,336 116,717,893
1 116,719,763 116,720,127
CDS
Exon number Type Start Stop
2 CDS 116,717,810 116,717,893
1 CDS 116,719,763 116,719,819
Other genome
Genome Chromosome Start End Links
hg19 chr12 117,155,141 117,157,932 Link
CDS sequence
ATGGCAGTCGAAGATCACTTTGAGTTGTGCCTGGCCAAATGCAGGACCTCATCTCAGAGCGTGCAGCATGAGAACACCTACCGGGACCCCATAGCAAAGTATTGCTATGGAGAAAGCCCGCCCGAGCTCTTCCCCGCTTGA
Amino sequence
MAVEDHFELCLAKCRTSSQSVQHENTYRDPIAKYCYGESPPELFPA*