ENST00000330590.4 DEFA5

Information
Transcript ID
ENST00000330590.4
Genome
hg19
Position
chr8:6,912,826-6,914,261
Strand
-
CDS length
285
Amino acid length
95
Gene symbol
DEFA5
Gene type
protein-coding
Gene description
defensin alpha 5
Gene Entrez Gene ID
1670
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
2 6,912,826 6,913,065
1 6,914,048 6,914,261
CDS
Exon number Type Start Stop
2 CDS 6,912,953 6,913,065
1 CDS 6,914,048 6,914,219
Other genome
Genome Chromosome Start End Links
hg38 chr8 7,055,304 7,056,739 Link
CDS sequence
ATGAGGACCATCGCCATCCTTGCTGCCATTCTCCTGGTGGCCCTGCAGGCCCAGGCTGAGTCACTCCAGGAAAGAGCTGATGAGGCTACAACCCAGAAGCAGTCTGGGGAAGACAACCAGGACCTTGCTATCTCCTTTGCAGGAAATGGACTCTCTGCTCTTAGAACCTCAGGTTCTCAGGCAAGAGCCACCTGCTATTGCCGAACCGGCCGTTGTGCTACCCGTGAGTCCCTCTCCGGGGTGTGTGAAATCAGTGGCCGCCTCTACAGACTCTGCTGTCGCTGA
Amino sequence
MRTIAILAAILLVALQAQAESLQERADEATTQKQSGEDNQDLAISFAGNGLSALRTSGSQARATCYCRTGRCATRESLSGVCEISGRLYRLCCR*