ENST00000597020.5 AP2S1

Information
Transcript ID
ENST00000597020.5
Genome
hg19
Position
chr19:47,341,429-47,349,405
Strand
-
CDS length
369
Amino acid length
123
Gene symbol
AP2S1
Gene type
protein-coding
Gene description
adaptor related protein complex 2 subunit sigma 1
Gene Entrez Gene ID
1175
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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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
4 47,341,429 47,341,805
3 47,341,997 47,342,056
2 47,342,722 47,342,835
1 47,349,250 47,349,405
CDS
Exon number Type Start Stop
4 CDS 47,341,704 47,341,805
3 CDS 47,341,997 47,342,056
2 CDS 47,342,722 47,342,835
1 CDS 47,349,250 47,349,342
Other genome
Genome Chromosome Start End Links
hg38 chr19 46,838,172 46,846,148 Link
CDS sequence
ATGCAGTTTGATGATGATGAGAAACAGAAGCTGATCGAGGAGGTGCATGCCGTGGTCACCGTCCGAGACGCCAAACACACCAACTTTGTGGAGTTCCGGAACTTTAAGATCATTTACCGCCGCTATGCTGGCCTCTACTTCTGCATCTGTGTGGATGTCAATGACAACAACCTGGCTTACCTGGAGGCCATTCACAACTTCGTGGAGGTCTTAAACGAATATTTCCACAATGTCTGTGAACTGGACCTGGTGTTCAACTTCTACAAGGTTTACACGGTCGTGGACGAGATGTTCCTGGCTGGCGAAATCCGAGAGACCAGCCAGACGAAGGTGCTGAAACAGCTGCTGATGCTACAGTCCCTGGAGTGA
Amino sequence
MQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYRRYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLAGEIRETSQTKVLKQLLMLQSLE*