ENST00000629846.2 PFKM

Information
Transcript ID
ENST00000629846.2
Genome
hg38
Position
chr12:48,119,343-48,132,090
Strand
+
CDS length
309
Amino acid length
103
Gene symbol
PFKM
Gene type
protein-coding
Gene description
phosphofructokinase, muscle
Gene Entrez Gene ID
5213
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 48,119,343 48,119,406
2 48,122,767 48,122,859
3 48,130,363 48,130,436
4 48,131,316 48,131,393
5 48,132,019 48,132,090
CDS
Exon number Type Start Stop
2 CDS 48,122,775 48,122,859
3 CDS 48,130,363 48,130,436
4 CDS 48,131,316 48,131,393
5 CDS 48,132,019 48,132,090
Other genome
Genome Chromosome Start End Links
hg19 chr12 48,513,126 48,525,873 Link
CDS sequence
ATGACCCATGAAGAGCACCATGCAGCCAAAACCCTGGGGATTGGCAAAGCCATTGCTGTCTTAACCTCTGGTGGAGATGCCCAAGGTATGAATGCTGCTGTCAGGGCTGTGGTTCGAGTTGGTATCTTCACCGGTGCCCGTGTCTTCTTTGTCCATGAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGCTCAGTTCCCTAAAAATCCATGGGCAAAAATTTAATATGCAGTGTCTAGTGAAGGCTCTACCTAGGTGCTAA
Amino sequence
MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLLSSLKIHGQKFNMQCLVKALPRC*