ENST00000683047.1 PHETA1

Information
Transcript ID
ENST00000683047.1
Genome
hg19
Position
chr12:111,798,483-111,806,899
Strand
-
CDS length
750
Amino acid length
250
Gene symbol
PHETA1
Gene type
protein-coding
Gene description
PH domain containing endocytic trafficking adaptor 1
Gene Entrez Gene ID
144717
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
3 111,798,483 111,801,267
2 111,803,917 111,804,061
1 111,806,716 111,806,899
CDS
Exon number Type Start Stop
3 CDS 111,800,482 111,801,231
Other genome
Genome Chromosome Start End Links
hg38 chr12 111,360,679 111,369,095 Link
CDS sequence
ATGAAGCTGAACGAGCGCAGCCTGGCCTTCTACGCCACCTGTGACGCCCCGGTGGACAATGCAGGCTTCCTGTACAAGAAGGGTGGGCGGCACGCGGCCTACCACCGGCGCTGGTTCGTGCTGCGCGGGAACATGCTCTTCTACTTCGAGGACGCTGCCAGCCGTGAGCCCGTGGGCGTCATCATCCTGGAGGGCTGCACTGTGGAGCTGGTGGAGGCCGCCGAGGAGTTCGCCTTCGCTGTGCGCTTTGCGGGGACCCGGGCGCGCACCTACGTGCTGGCCGCTGAGAGTCAGGATGCCATGGAGGGCTGGGTCAAGGCCCTGTCGCGTGCCAGCTTCGACTACCTGCGGCTGGTGGTGCGCGAGCTGGAGCAGCAGCTGGCGGCTGTACGTGGCGGGGGTGGCATGGCCCTGCCCCAGCCCCAGCCCCAGTCCCTGCCCTTGCCCCCGTCCCTGCCCTCTGCCCTGGCCCCAGTCCCATCCCTGCCTTCTGCCCCAGCCCCGGTCCCAGCCCTGCCCCTGCCCCGCCGGCCCAGTGCCCTCCCGCCCAAGGAGAATGGCTGCGCTGTCTGGAGCACTGAGGCCACCTTCAGGCCTGGACCCGAGCCCCCTCCACCACCGCCTCGCCGCCGGGCCTCGGCACCCCACGGGCCCCTGGACATGGCCCCCTTCGCCCGGCTGCACGAGTGCTATGGCCAGGAGATCCGGGCCCTGCGTGGCCAGTGGCTCAGCAGCCGGGTCCAGCCCTGA
Amino sequence
MKLNERSLAFYATCDAPVDNAGFLYKKGGRHAAYHRRWFVLRGNMLFYFEDAASREPVGVIILEGCTVELVEAAEEFAFAVRFAGTRARTYVLAAESQDAMEGWVKALSRASFDYLRLVVRELEQQLAAVRGGGGMALPQPQPQSLPLPPSLPSALAPVPSLPSAPAPVPALPLPRRPSALPPKENGCAVWSTEATFRPGPEPPPPPPRRRASAPHGPLDMAPFARLHECYGQEIRALRGQWLSSRVQP*