ENST00000530496.6 GTF2H1

Information
Transcript ID
ENST00000530496.6
Genome
hg19
Position
chr11:18,368,651-18,387,822
Strand
+
CDS length
711
Amino acid length
237
Gene symbol
GTF2H1
Gene type
protein-coding
Gene description
general transcription factor IIH subunit 1
Gene Entrez Gene ID
2965
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 18,368,651 18,369,262
2 18,369,379 18,369,466
3 18,373,428 18,373,516
4 18,373,876 18,373,993
5 18,379,499 18,379,589
6 18,380,072 18,380,187
7 18,382,162 18,382,254
8 18,387,330 18,387,822
CDS
Exon number Type Start Stop
1 CDS 18,369,234 18,369,262
2 CDS 18,369,379 18,369,466
3 CDS 18,373,428 18,373,516
4 CDS 18,373,876 18,373,993
5 CDS 18,379,499 18,379,589
6 CDS 18,380,072 18,380,187
7 CDS 18,382,162 18,382,254
8 CDS 18,387,330 18,387,416
Other genome
Genome Chromosome Start End Links
hg38 chr11 18,347,104 18,366,275 Link
CDS sequence
ATGGTCCTGGCAGCTGGACTCAGAAAACAAGAAGCACAAAATGAACAAACTAGTGAGCCCAGCAACATGGATGGAAATTCCGGAGATGCAGACTGCTTTCAGCCAGCAGTCAAAAGGGCGAAATTACAAGAGTCCATTGAATATGAAGACTTGGGGAAAAATAATTCTGTAAAAACGATTGCACTAAACCTCAAGAAGTCAGATAGGTATTATCATGGTCCAACTCCAATCCAGTCACTACAGTATGCAACAAGTCAGGACATTATTAATTCTTTTCAAAGTATTAGACAAGAAATGGAAGCTTATACACCCAAGTTAACTCAGGTTCTCTCAAGTAGTGCTGCCAGTAGTACCATCACAGCACTGTCACCTGGAGGGGCACTTATGCAGGGAGGAACACAGCAAGCCATAAACCAGATGGTGCCAAATGATATTCAATCTGAATTGAAACACTTATATGTAGCTGTTGGAGAACTTCTACGACATTTCTGGTCCTGCTTTCCTGTTAATACGCCATTCCTAGAAGAAAAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATTTGGTAAGTCACATAGAAGAGATGCTCCAGACAGCCTACAACAAGCTCCACACATGGCAGTCACGGCGTCTGATGAAGAAAACGTGA
Amino sequence
MVLAAGLRKQEAQNEQTSEPSNMDGNSGDADCFQPAVKRAKLQESIEYEDLGKNNSVKTIALNLKKSDRYYHGPTPIQSLQYATSQDIINSFQSIRQEMEAYTPKLTQVLSSSAASSTITALSPGGALMQGGTQQAINQMVPNDIQSELKHLYVAVGELLRHFWSCFPVNTPFLEEKVVKMKSNLERFQVTKLCPFQEKIRRQYLSTNLVSHIEEMLQTAYNKLHTWQSRRLMKKT*