ENST00000675854.1 PMP22

Information
Transcript ID
ENST00000675854.1
Genome
hg19
Position
chr17:15,133,096-15,165,869
Strand
-
CDS length
279
Amino acid length
93
Gene symbol
PMP22
Gene type
protein-coding
Gene description
peripheral myelin protein 22
Gene Entrez Gene ID
5376
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 15,133,096 15,134,397
3 15,142,788 15,142,928
2 15,162,411 15,162,510
1 15,165,746 15,165,869
CDS
Exon number Type Start Stop
4 CDS 15,134,234 15,134,397
3 CDS 15,142,788 15,142,902
Other genome
Genome Chromosome Start End Links
hg38 chr17 15,229,779 15,262,552 Link
CDS sequence
ATGATCCTGTCGATCATCTTCAGCATTCTGTCTCTGTTCCTGTTCTTCTGCCAACTCTTCACCCTCACCAAGGGGGGCAGGTTTTACATCACTGGAATCTTCCAAATTCTTGCTGGTCTGTGCGTGATGAGTGCTGCGGCCATCTACACGGTGAGGCACCCGGAGTGGCATCTCAACTCGGATTACTCCTACGGTTTCGCCTACATCCTGGCCTGGGTGGCCTTCCCCCTGGCCCTTCTCAGCGGTGTCATCTATGTGATCTTGCGGAAACGCGAATGA
Amino sequence
MILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE*