ENST00000382692.3 DEFA1

Information
Transcript ID
ENST00000382692.3
Genome
hg38
Position
chr8:6,977,649-6,980,092
Strand
-
CDS length
285
Amino acid length
95
Gene symbol
DEFA1
Gene type
protein-coding
Gene description
defensin alpha 1
Gene Entrez Gene ID
1667
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
3 6,977,649 6,977,879
2 6,978,460 6,978,646
1 6,980,013 6,980,092
CDS
Exon number Type Start Stop
3 CDS 6,977,770 6,977,879
2 CDS 6,978,460 6,978,634
Other genome
Genome Chromosome Start End Links
hg19 chr8 6,835,171 6,837,614 Link
CDS sequence
ATGAGGACCCTCGCCATCCTTGCTGCCATTCTCCTGGTGGCCCTGCAGGCCCAGGCTGAGCCACTCCAGGCAAGAGCTGATGAGGTTGCTGCAGCCCCGGAGCAGATTGCAGCGGACATCCCAGAAGTGGTTGTTTCCCTTGCATGGGACGAAAGCTTGGCTCCAAAGCATCCAGGCTCAAGGAAAAACATGGCCTGCTATTGCAGAATACCAGCGTGCATTGCAGGAGAACGTCGCTATGGAACCTGCATCTACCAGGGAAGACTCTGGGCATTCTGCTGCTGA
Amino sequence
MRTLAILAAILLVALQAQAEPLQARADEVAAAPEQIAADIPEVVVSLAWDESLAPKHPGSRKNMACYCRIPACIAGERRYGTCIYQGRLWAFCC*