ENST00000597020.5 AP2S1

Information
Transcript ID
ENST00000597020.5
Genome
hg38
Position
chr19:46,838,172-46,846,148
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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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
4 46,838,172 46,838,548
3 46,838,740 46,838,799
2 46,839,465 46,839,578
1 46,845,993 46,846,148
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 46,845,993 46,846,085
Other genome
Genome Chromosome Start End Links
hg19 chr19 47,341,429 47,349,405 Link
CDS sequence
ATGCAGTTTGATGATGATGAGAAACAGAAGCTGATCGAGGAGGTGCATGCCGTGGTCACCGTCCGAGACGCCAAACACACCAACTTTGTGGAGTTCCGGAACTTTAAGATCATTTACCGCCGCTATGCTGGCCTCTACTTCTGCATCTGTGTGGATGTCAATGACAACAACCTGGCTTACCTGGAGGCCATTCACAACTTCGTGGAGGTCTTAAACGAATATTTCCACAATGTCTGTGAACTGGACCTGGTGTTCAACTTCTACAAGGTTTACACGGTCGTGGACGAGATGTTCCTGGCTGGCGAAATCCGAGAGACCAGCCAGACGAAGGTGCTGAAACAGCTGCTGATGCTACAGTCCCTGGAGTGA
Amino sequence
MQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYRRYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLAGEIRETSQTKVLKQLLMLQSLE*