ENST00000625942.1 PFAS

Information
Transcript ID
ENST00000625942.1
Genome
hg19
Position
chr17:8,157,256-8,159,134
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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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
1 8,157,256 8,157,397
2 8,157,484 8,157,619
3 8,158,345 8,158,450
4 8,159,123 8,159,134
CDS
Exon number Type Start Stop
1 CDS 8,157,256 8,157,397
2 CDS 8,157,484 8,157,619
3 CDS 8,158,345 8,158,450
4 CDS 8,159,123 8,159,134
Other genome
Genome Chromosome Start End Links
hg38 chr17 8,253,938 8,255,816 Link
CDS sequence
ATGTCCCCAGTCCTTCACTTCTATGTTCGTCCCTCTGGCCATGAGGGGGCAGCCCCTGGACACACTCGGAGGAAACTGCAAGGGAAACTGCCAGAGCTGCAGGGCGTCGAGACTGAACTGTGCTACAACGTGAACTGGACAGCTGAGGCCCTCCCCAGTGCTGAGGAGACAAAGAAGCTGATGTGGCTGTTTGGTTGCCCCTTACTGCTGGATGATGTTGCTCGGGAGTCCTGGCTCCTTCCTGGCTCCAATGACCTGCTGCTGGAGGTCGGGCCCAGGCTGAACTTCTCCACCCCAACATCCACCAACATCGTGTCAGTGTGCCGCGCCACTGGGCTGGGGCCTGTGGATCGTGTGGAGACCACCCGGCGCTACCGGCTCTCGGTCTGGCTTTAG
Amino sequence
MSPVLHFYVRPSGHEGAAPGHTRRKLQGKLPELQGVETELCYNVNWTAEALPSAEETKKLMWLFGCPLLLDDVARESWLLPGSNDLLLEVGPRLNFSTPTSTNIVSVCRATGLGPVDRVETTRRYRLSVWL*