ENST00000593442.5 AP2S1

Information
Transcript ID
ENST00000593442.5
Genome
hg38
Position
chr19:46,838,158-46,850,834
Strand
-
CDS length
279
Amino acid length
93
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 46,838,158 46,838,548
3 46,838,740 46,838,799
2 46,839,465 46,839,578
1 46,850,764 46,850,834
CDS
Exon number Type Start Stop
4 CDS 46,838,447 46,838,548
3 CDS 46,838,740 46,838,799
2 CDS 46,839,465 46,839,578
1 CDS 46,850,764 46,850,766
Other genome
Genome Chromosome Start End Links
hg19 chr19 47,341,415 47,354,091 Link
CDS sequence
ATGTTCCGGAACTTTAAGATCATTTACCGCCGCTATGCTGGCCTCTACTTCTGCATCTGTGTGGATGTCAATGACAACAACCTGGCTTACCTGGAGGCCATTCACAACTTCGTGGAGGTCTTAAACGAATATTTCCACAATGTCTGTGAACTGGACCTGGTGTTCAACTTCTACAAGGTTTACACGGTCGTGGACGAGATGTTCCTGGCTGGCGAAATCCGAGAGACCAGCCAGACGAAGGTGCTGAAACAGCTGCTGATGCTACAGTCCCTGGAGTGA
Amino sequence
MFRNFKIIYRRYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLAGEIRETSQTKVLKQLLMLQSLE*