ENST00000382689.8 DEFA1B

Information
Transcript ID
ENST00000382689.8
Genome
hg19
Position
chr8:6,854,288-6,856,720
Strand
-
CDS length
285
Amino acid length
95
Gene symbol
DEFA1B
Gene type
protein-coding
Gene description
defensin alpha 1B
Gene Entrez Gene ID
728358
Variants

Display target variant


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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 6,854,288 6,854,518
2 6,855,099 6,855,285
1 6,856,645 6,856,720
CDS
Exon number Type Start Stop
3 CDS 6,854,409 6,854,518
2 CDS 6,855,099 6,855,273
Other genome
Genome Chromosome Start End Links
hg38 chr8 6,996,766 6,999,198 Link
CDS sequence
ATGAGGACCCTCGCCATCCTTGCTGCCATTCTCCTGGTGGCCCTGCAGGCCCAGGCTGAGCCACTCCAGGCAAGAGCTGATGAGGTTGCTGCAGCCCCGGAGCAGATTGCAGCGGACATCCCAGAAGTGGTTGTTTCCCTTGCATGGGACGAAAGCTTGGCTCCAAAGCATCCAGGCTCAAGGAAAAACATGGCCTGCTATTGCAGAATACCAGCGTGCATTGCAGGAGAACGTCGCTATGGAACCTGCATCTACCAGGGAAGACTCTGGGCATTCTGCTGCTGA
Amino sequence
MRTLAILAAILLVALQAQAEPLQARADEVAAAPEQIAADIPEVVVSLAWDESLAPKHPGSRKNMACYCRIPACIAGERRYGTCIYQGRLWAFCC*