ENST00000625942.1 PFAS

Information
Transcript ID
ENST00000625942.1
Genome
hg38
Position
chr17:8,253,938-8,255,816
Strand
+
CDS length
396
Amino acid length
132
Gene symbol
PFAS
Gene type
protein-coding
Gene description
phosphoribosylformylglycinamidine synthase
Gene Entrez Gene ID
5198
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 8,253,938 8,254,079
2 8,254,166 8,254,301
3 8,255,027 8,255,132
4 8,255,805 8,255,816
CDS
Exon number Type Start Stop
1 CDS 8,253,938 8,254,079
2 CDS 8,254,166 8,254,301
3 CDS 8,255,027 8,255,132
4 CDS 8,255,805 8,255,816
Other genome
Genome Chromosome Start End Links
hg19 chr17 8,157,256 8,159,134 Link
CDS sequence
ATGTCCCCAGTCCTTCACTTCTATGTTCGTCCCTCTGGCCATGAGGGGGCAGCCCCTGGACACACTCGGAGGAAACTGCAAGGGAAACTGCCAGAGCTGCAGGGCGTCGAGACTGAACTGTGCTACAACGTGAACTGGACAGCTGAGGCCCTCCCCAGTGCTGAGGAGACAAAGAAGCTGATGTGGCTGTTTGGTTGCCCCTTACTGCTGGATGATGTTGCTCGGGAGTCCTGGCTCCTTCCTGGCTCCAATGACCTGCTGCTGGAGGTCGGGCCCAGGCTGAACTTCTCCACCCCAACATCCACCAACATCGTGTCAGTGTGCCGCGCCACTGGGCTGGGGCCTGTGGATCGTGTGGAGACCACCCGGCGCTACCGGCTCTCGGTCTGGCTTTAG
Amino sequence
MSPVLHFYVRPSGHEGAAPGHTRRKLQGKLPELQGVETELCYNVNWTAEALPSAEETKKLMWLFGCPLLLDDVARESWLLPGSNDLLLEVGPRLNFSTPTSTNIVSVCRATGLGPVDRVETTRRYRLSVWL*