ENST00000682488.1 GMPPA

Information
Transcript ID
ENST00000682488.1
Genome
hg38
Position
chr2:219,499,954-219,506,951
Strand
+
CDS length
144
Amino acid length
48
Gene symbol
GMPPA
Gene type
protein-coding
Gene description
GDP-mannose pyrophosphorylase A
Gene Entrez Gene ID
29926
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
1 219,499,954 219,500,015
2 219,500,121 219,500,149
3 219,506,724 219,506,951
CDS
Exon number Type Start Stop
1 CDS 219,499,976 219,500,015
2 CDS 219,500,121 219,500,149
3 CDS 219,506,724 219,506,798
Other genome
Genome Chromosome Start End Links
hg19 chr2 220,364,676 220,371,673 Link
CDS sequence
ATGCTCAAAGCGGTGATCCTGATTGGAGGCCCTCAAAAGGGAACTCGCTTCAGACCTTTGTCTTTTGAGGTGCTCATCCTGAACTCGATTGTTCTGCCACACAAGGAGCTGAGCCGAAGCTTCACCAACCAGATCATCCTCTGA
Amino sequence
MLKAVILIGGPQKGTRFRPLSFEVLILNSIVLPHKELSRSFTNQIIL*