ENST00000676161.1 PMP22

Information
Transcript ID
ENST00000676161.1
Genome
hg38
Position
chr17:15,229,795-15,265,230
Strand
-
CDS length
342
Amino acid length
114
Gene symbol
PMP22
Gene type
protein-coding
Gene description
peripheral myelin protein 22
Gene Entrez Gene ID
5376
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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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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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
4 15,229,795 15,231,080
3 15,259,094 15,259,193
2 15,260,650 15,260,761
1 15,265,154 15,265,230
CDS
Exon number Type Start Stop
4 CDS 15,230,917 15,231,080
3 CDS 15,259,094 15,259,193
2 CDS 15,260,650 15,260,727
Other genome
Genome Chromosome Start End Links
hg19 chr17 15,133,112 15,168,547 Link
CDS sequence
ATGCTCCTCCTGTTGCTGAGTATCATCGTCCTCCACGTCGCGGTGCTGGTGCTGCTGTTCGTCTCCACGATCGTCAGCCAATGGATCGTGGGCAATGGACACGCAACTGATCTCTGGCAGAACTGTAGCACCTCTTCCTCAGGAAATGTCCACCACTGTTTCTCATCATCACCAAACGGTCTGTGCGTGATGAGTGCTGCGGCCATCTACACGGTGAGGCACCCGGAGTGGCATCTCAACTCGGATTACTCCTACGGTTTCGCCTACATCCTGGCCTGGGTGGCCTTCCCCCTGGCCCTTCTCAGCGGTGTCATCTATGTGATCTTGCGGAAACGCGAATGA
Amino sequence
MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE*