ENST00000382692.3 DEFA1

Information
Transcript ID
ENST00000382692.3
Genome
hg19
Position
chr8:6,835,171-6,837,614
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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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 6,835,171 6,835,401
2 6,835,982 6,836,168
1 6,837,535 6,837,614
CDS
Exon number Type Start Stop
3 CDS 6,835,292 6,835,401
2 CDS 6,835,982 6,836,156
Other genome
Genome Chromosome Start End Links
hg38 chr8 6,977,649 6,980,092 Link
CDS sequence
ATGAGGACCCTCGCCATCCTTGCTGCCATTCTCCTGGTGGCCCTGCAGGCCCAGGCTGAGCCACTCCAGGCAAGAGCTGATGAGGTTGCTGCAGCCCCGGAGCAGATTGCAGCGGACATCCCAGAAGTGGTTGTTTCCCTTGCATGGGACGAAAGCTTGGCTCCAAAGCATCCAGGCTCAAGGAAAAACATGGCCTGCTATTGCAGAATACCAGCGTGCATTGCAGGAGAACGTCGCTATGGAACCTGCATCTACCAGGGAAGACTCTGGGCATTCTGCTGCTGA
Amino sequence
MRTLAILAAILLVALQAQAEPLQARADEVAAAPEQIAADIPEVVVSLAWDESLAPKHPGSRKNMACYCRIPACIAGERRYGTCIYQGRLWAFCC*