ENST00000622191.2 GMPPA

Information
Transcript ID
ENST00000622191.2
Genome
hg19
Position
chr2:220,363,629-220,371,686
Strand
+
CDS length
1,263
Amino acid length
421
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
1 220,363,629 220,363,976
2 220,364,678 220,364,737
3 220,364,843 220,364,940
4 220,366,198 220,366,301
5 220,366,573 220,366,759
6 220,367,104 220,367,163
7 220,368,805 220,368,935
8 220,369,950 220,370,084
9 220,370,180 220,370,277
10 220,370,437 220,370,483
11 220,370,702 220,370,794
12 220,370,976 220,371,144
13 220,371,420 220,371,686
CDS
Exon number Type Start Stop
2 CDS 220,364,698 220,364,737
3 CDS 220,364,843 220,364,940
4 CDS 220,366,198 220,366,301
5 CDS 220,366,573 220,366,759
6 CDS 220,367,104 220,367,163
7 CDS 220,368,805 220,368,935
8 CDS 220,369,950 220,370,084
9 CDS 220,370,180 220,370,277
10 CDS 220,370,437 220,370,483
11 CDS 220,370,702 220,370,794
12 CDS 220,370,976 220,371,144
13 CDS 220,371,420 220,371,520
Other genome
Genome Chromosome Start End Links
hg38 chr2 219,498,907 219,506,964 Link
CDS sequence
ATGCTCAAAGCGGTGATCCTGATTGGAGGCCCTCAAAAGGGAACTCGCTTCAGACCTTTGTCTTTTGAGGTGCCCAAACCATTGTTTCCTGTGGCAGGGGTCCCTATGATCCAACACCATATTGAAGCCTGTGCCCAGGTCCCTGGAATGCAGGAGATTCTGCTCATTGGCTTCTACCAACCTGATGAGCCCCTCACCCAGTTCCTAGAAGCCGCCCAGCAGGAGTTTAACCTTCCAGTCAGGTACCTGCAGGAATTTGCCCCCCTAGGCACAGGGGGTGGTCTTTACCATTTTCGAGACCAGATCCTGGCTGGGAGCCCCGAGGCATTCTTCGTGCTCAATGCTGATGTCTGCTCCGACTTCCCCTTGAGTGCTATGTTGGAAGCCCACCGACGCCAGCGTCACCCTTTCTTACTCCTTGGCACTACGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTATTGCACTATGTGGAGAAACCCAGCACATTTATCAGTGACATCATCAACTGCGGCATCTACCTCTTTTCTCCTGAAGCCTTGAAGCCTCTTCGGGATGTCTTCCAGCGTAATCAGCAGGATGGGCAATTGGAGGACTCACCAGGCTTGTGGCCAGGGGCAGGTACCATCCGCCTAGAGCAGGATGTGTTTTCAGCCCTGGCAGGGCAGGGCCAGATATACGTGCATCTCACTGATGGTATCTGGAGTCAGATCAAGTCCGCAGGTTCAGCCCTCTACGCCTCCCGCCTCTACCTGAGCCGATACCAGGACACTCACCCAGAACGGCTGGCCAAGCACACCCCAGGGGGCCCATGGATCCGAGGGAATGTGTACATCCACCCGACCGCCAAGGTGGCCCCCTCGGCTGTGCTGGGCCCCAACGTCTCCATCGGGAAGGGGGTGACCGTGGGTGAGGGTGTGCGGCTCCGGGAGAGCATCGTCCTCCATGGAGCCACTTTGCAGGAGCACACGTGTGTTCTGCATAGCATCGTGGGCTGGGGGAGCACCGTGGGACGCTGGGCCCGCGTGGAGGGTACCCCCAGTGACCCTAACCCCAACGATCCCCGAGCCCGCATGGACAGTGAGAGCCTCTTCAAGGACGGGAAGCTGCTGCCTGCTATCACCATCCTGGGCTGCCGAGTCCGGATCCCTGCCGAGGTGCTCATCCTGAACTCGATTGTTCTGCCACACAAGGAGCTGAGCCGAAGCTTCACCAACCAGATCATCCTCTGA
Amino sequence
MLKAVILIGGPQKGTRFRPLSFEVPKPLFPVAGVPMIQHHIEACAQVPGMQEILLIGFYQPDEPLTQFLEAAQQEFNLPVRYLQEFAPLGTGGGLYHFRDQILAGSPEAFFVLNADVCSDFPLSAMLEAHRRQRHPFLLLGTTANRTQSLNYGCIVENPQTHEVLHYVEKPSTFISDIINCGIYLFSPEALKPLRDVFQRNQQDGQLEDSPGLWPGAGTIRLEQDVFSALAGQGQIYVHLTDGIWSQIKSAGSALYASRLYLSRYQDTHPERLAKHTPGGPWIRGNVYIHPTAKVAPSAVLGPNVSIGKGVTVGEGVRLRESIVLHGATLQEHTCVLHSIVGWGSTVGRWARVEGTPSDPNPNDPRARMDSESLFKDGKLLPAITILGCRVRIPAEVLILNSIVLPHKELSRSFTNQIIL*