ENST00000683752.1 GMPPA

Information
Transcript ID
ENST00000683752.1
Genome
hg38
Position
chr2:219,498,914-219,506,798
Strand
+
CDS length
912
Amino acid length
304
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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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
1 219,498,914 219,499,254
2 219,499,961 219,500,015
3 219,500,121 219,500,218
4 219,504,083 219,504,213
5 219,505,228 219,505,362
6 219,505,458 219,505,555
7 219,505,715 219,505,761
8 219,505,980 219,506,072
9 219,506,254 219,506,422
10 219,506,698 219,506,798
CDS
Exon number Type Start Stop
2 CDS 219,499,976 219,500,015
3 CDS 219,500,121 219,500,218
4 CDS 219,504,083 219,504,213
5 CDS 219,505,228 219,505,362
6 CDS 219,505,458 219,505,555
7 CDS 219,505,715 219,505,761
8 CDS 219,505,980 219,506,072
9 CDS 219,506,254 219,506,422
10 CDS 219,506,698 219,506,798
Other genome
Genome Chromosome Start End Links
hg19 chr2 220,363,636 220,371,520 Link
CDS sequence
ATGCTCAAAGCGGTGATCCTGATTGGAGGCCCTCAAAAGGGAACTCGCTTCAGACCTTTGTCTTTTGAGGTGCCCAAACCATTGTTTCCTGTGGCAGGGGTCCCTATGATCCAACACCATATTGAAGCCTGTGCCCAGGTATTGCACTATGTGGAGAAACCCAGCACATTTATCAGTGACATCATCAACTGCGGCATCTACCTCTTTTCTCCTGAAGCCTTGAAGCCTCTTCGGGATGTCTTCCAGCGTAATCAGCAGGATGGGCAATTGGAGGACTCACCAGGCTTGTGGCCAGGGGCAGGTACCATCCGCCTAGAGCAGGATGTGTTTTCAGCCCTGGCAGGGCAGGGCCAGATATACGTGCATCTCACTGATGGTATCTGGAGTCAGATCAAGTCCGCAGGTTCAGCCCTCTACGCCTCCCGCCTCTACCTGAGCCGATACCAGGACACTCACCCAGAACGGCTGGCCAAGCACACCCCAGGGGGCCCATGGATCCGAGGGAATGTGTACATCCACCCGACCGCCAAGGTGGCCCCCTCGGCTGTGCTGGGCCCCAACGTCTCCATCGGGAAGGGGGTGACCGTGGGTGAGGGTGTGCGGCTCCGGGAGAGCATCGTCCTCCATGGAGCCACTTTGCAGGAGCACACGTGTGTTCTGCATAGCATCGTGGGCTGGGGGAGCACCGTGGGACGCTGGGCCCGCGTGGAGGGTACCCCCAGTGACCCTAACCCCAACGATCCCCGAGCCCGCATGGACAGTGAGAGCCTCTTCAAGGACGGGAAGCTGCTGCCTGCTATCACCATCCTGGGCTGCCGAGTCCGGATCCCTGCCGAGGTGCTCATCCTGAACTCGATTGTTCTGCCACACAAGGAGCTGAGCCGAAGCTTCACCAACCAGATCATCCTCTGA
Amino sequence
MLKAVILIGGPQKGTRFRPLSFEVPKPLFPVAGVPMIQHHIEACAQVLHYVEKPSTFISDIINCGIYLFSPEALKPLRDVFQRNQQDGQLEDSPGLWPGAGTIRLEQDVFSALAGQGQIYVHLTDGIWSQIKSAGSALYASRLYLSRYQDTHPERLAKHTPGGPWIRGNVYIHPTAKVAPSAVLGPNVSIGKGVTVGEGVRLRESIVLHGATLQEHTCVLHSIVGWGSTVGRWARVEGTPSDPNPNDPRARMDSESLFKDGKLLPAITILGCRVRIPAEVLILNSIVLPHKELSRSFTNQIIL*