ENST00000483405.5 ASPHD1

Information
Transcript ID
ENST00000483405.5
Genome
hg19
Position
chr16:29,911,700-29,917,377
Strand
+
CDS length
330
Amino acid length
110
Gene symbol
ASPHD1
Gene type
protein-coding
Gene description
aspartate beta-hydroxylase domain containing 1
Gene Entrez Gene ID
253982
Variants

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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
1 29,911,700 29,912,062
2 29,912,873 29,913,241
3 29,916,173 29,916,286
4 29,917,109 29,917,377
CDS
Exon number Type Start Stop
2 CDS 29,913,136 29,913,241
3 CDS 29,916,173 29,916,286
4 CDS 29,917,109 29,917,218
Other genome
Genome Chromosome Start End Links
hg38 chr16 29,900,379 29,906,056 Link
CDS sequence
ATGAGTGCCAACACCTTCGGCAATGCCGGCTTTTCCGTTCTCCTGCCTGGGGCCCGGCTCGAGGGCCGCTGTGGGCCCACCAATGCCCGGGTCAGATGCCATCTGGGCCTAAAGATCCCTCCTGGCTGTGAGCTGGTGGTCGGCGGTGAGCCCCAGTGCTGGGCTGAGGGGCACTGTCTACTGGTGGACGACTCTTTTCTACACACAGTGGCTCACAATGGCTCCCCCGAAGATGGGCCTCGAGTGGTCTTCATCGTGGACCTCTGGCACCCCAACGTGGCAGGGGCTGAGCGCCAGGCCCTCGACTTTGTCTTCGCCCCAGACCCTTGA
Amino sequence
MSANTFGNAGFSVLLPGARLEGRCGPTNARVRCHLGLKIPPGCELVVGGEPQCWAEGHCLLVDDSFLHTVAHNGSPEDGPRVVFIVDLWHPNVAGAERQALDFVFAPDP*