Information

Transcript ID: ENST00000368806.2
Genome: hg19
Position: chr1:152,056,617-152,061,540
Strand: -
CDS length: 2,715
Amino acid length: 905
Gene symbol: TCHHL1
Gene type: protein-coding
Gene description: trichohyalin like 1
Gene Entrez Gene ID: 126637

Variants

Display target variant

MGeND data only All data

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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
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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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
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Exon

Exon number	Start	Stop
3	152,056,617	152,060,019
2	152,060,482	152,060,639
1	152,061,496	152,061,540

CDS

Exon number	Type	Start	Stop
3	CDS	152,057,443	152,060,019
2	CDS	152,060,482	152,060,619

Other genome

Genome	Chromosome	Start	End	Links
hg38	chr1	152,084,141	152,089,064	Link

CDS sequence

ATGCCTCAGCTCCTGAGAAATGTCCTCTGTGTAATTGAGACATTCCACAAATATGCCAGTGAGGACAGTAACGGGGCAACACTGACTGGCAGAGAGCTGAAACAACTCATCCAGGGCGAGTTTGGGGACTTTTTTCAGCCCTGTGTCCTTCATGCTGTGGAAAAAAATTCAAATCTTCTGAATATTGACAGTAATGGCATCATCAGTTTTGATGAATTTGTTCTTGCAATCTTCAACTTGTTGAACCTCTGTTATCTTGACATAAAATCATTACTAAGTTCTGAACTAAGACAGGTGACTAAACCAGAGAAGGAGAAGCTAGATGATGTGGATGTTCAGGCAACCACCGGAGATGGTCAGTGGACAGTGGGAACTTCACCAACTCAAGAAAAGAGGATGCTTCCTTCAGGAATGGCATCATCATCTCAGCTCATCCCTGAAGAAAGTGGAGCAGTTGGAAATAACAGAGTGGACCCATGGAGAGAAGCCAAGACTCACAACTTTCCAGGAGAAGCATCTGAACACAATGATCCTAAGAACAAACACCTGGAAGGAGATGAACAAAGTCAGGAAGTGGCTCAAGATATACAAACAACAGAAGACAATGAAGGCCAACTTAAGACAAATAAGCCAATGGCAGGATCAAAAAAGACCAGCAGTCCCACAGAGAGGAAGGGACAAGATAAGGAGATCTCCCAGGAAGGAGATGAACCAGCCAGAGAGCAAAGTGTTTCCAAGATAAGAGACCAGTTTGGAGAACAGGAAGGAAACTTGGCAACCCAAAGTTCACCACCAAAAGAAGCAACACAAAGACCATGTGAAGATCAGGAAGTTAGAACAGAAAAGGAAAAACACTCTAATATACAAGAACCACCCCTACAAAGAGAAGATGAGCCCAGTTCACAGCATGCTGACCTGCCAGAACAAGCTGCTGCCAGGTCACCATCTCAGACACAGAAATCAACTGATTCCAAGGATGTCTGTAGAATGTTTGACACTCAAGAACCAGGAAAGGATGCTGACCAGACACCAGCTAAAACAAAGAATTTGGGTGAACCTGAGGATTATGGCAGAACATCTGAGACCCAAGAAAAAGAATGTGAAACAAAGGACCTGCCAGTCCAATATGGTAGCAGAAATGGTTCAGAAACATCTGACATGAGAGATGAAAGGAAAGAGAGGAGAGGTCCTGAGGCCCATGGAACAGCAGGGCAGAAAGAACGTGACAGAAAAACTCGGCCACTAGTCCTGGAAACCCAAACACAGGATGGGAAGTATCAGGAACTCCAAGGATTATCAAAATCAAAAGATGCTGAAAAAGGTTCTGAGACACAATATCTAAGCTCAGAAGGAGGAGATCAGACTCACCCTGAACTTGAAGGAACAGCAGTCTCAGGAGAAGAGGCAGAACACACCAAAGAAGGCACAGCAGAAGCATTTGTGAACAGCAAAAACGCACCTGCAGCAGAAAGGACACTGGGGGCAAGAGAAAGAACACAAGATTTAGCACCACTTGAGAAGCAGTCTGTAGGAGAAAATACTAGGGTCACCAAGACTCATGACCAACCAGTTGAGGAGGAGGATGGTTACCAGGGGGAGGACCCTGAGTCACCATTCACACAGAGTGATGAGGGGTCTTCTGAAACTCCCAACAGCCTGGCTTCAGAGGAAGGCAATAGCAGCTCAGAGACAGGTGAACTGCCTGTGCAAGGGGACTCCCAGAGTCAAGGGGACCAACATGGAGAGTCTGTGCAAGGAGGTCACAATAATAACCCAGATACCCAGAGGCAGGGAACACCTGGTGAGAAAAACAGAGCTCTGGAGGCAGTGGTACCAGCAGTCAGAGGAGAGGATGTACAGCTCACAGAGGACCAGGAACAGCCTGCCAGAGGAGAACACAAGAATCAAGGCCCAGGGACCAAAGGCCCAGGTGCAGCTGTGGAGCCCAATGGACACCCAGAAGCACAGGAATCCACAGCAGGAGATGAAAATAGAAAGTCCCTGGAAATAGAGATCACAGGTGCCCTGGATGAAGACTTCACTGACCAGCTTTCCCTAATGCAGCTCCCTGGAAAGGGAGATAGCAGAAATGAATTAAAGGTCCAAGGCCCAAGTAGCAAAGAAGAGAAAGGAAGAGCAACAGAGGCCCAGAATACTCTGTTAGAAAGTCTAGATGAGGACAATTCAGCCTCCCTCAAGATACAACTTGAAACAAAGGAACCTGTAACATCAGAGGAGGAAGATGAAAGTCCCCAAGAGCTGGCAGGAGAAGGTGGTGACCAAAAAAGTCCAGCCAAGAAAGAGCACAATTCTTCAGTCCCCTGGTCAAGTCTTGAAAAGCAGATGCAGAGAGACCAAGAGCCCTGTTCTGTGGAGAGGGGTGCAGTCTATTCCAGTCCACTATACCAGTACCTACAGGAGAAGATACTGCAGCAAACAAATGTAACCCAAGAGGAGCATCAAAAGCAAGTTCAGATAGCCCAGGCATCAGGCCCAGAGCTTTGCAGTGTATCCCTCACCAGTGAGATCTCAGATTGTTCTGTCTTTTTCAACTACAGCCAAGCATCACAACCATATACCAGGGGACTTCCACTTGATGAGAGTCCTGCTGGTGCACAGGAAACACCAGCTCCCCAGGCCTTGGAAGATAAGCAAGGTCACCCTCAGAGAGAGAGGCTGGTACTACAAAGGGAGGCAAGCACCACAAAGCAATGA

Amino sequence

MPQLLRNVLCVIETFHKYASEDSNGATLTGRELKQLIQGEFGDFFQPCVLHAVEKNSNLLNIDSNGIISFDEFVLAIFNLLNLCYLDIKSLLSSELRQVTKPEKEKLDDVDVQATTGDGQWTVGTSPTQEKRMLPSGMASSSQLIPEESGAVGNNRVDPWREAKTHNFPGEASEHNDPKNKHLEGDEQSQEVAQDIQTTEDNEGQLKTNKPMAGSKKTSSPTERKGQDKEISQEGDEPAREQSVSKIRDQFGEQEGNLATQSSPPKEATQRPCEDQEVRTEKEKHSNIQEPPLQREDEPSSQHADLPEQAAARSPSQTQKSTDSKDVCRMFDTQEPGKDADQTPAKTKNLGEPEDYGRTSETQEKECETKDLPVQYGSRNGSETSDMRDERKERRGPEAHGTAGQKERDRKTRPLVLETQTQDGKYQELQGLSKSKDAEKGSETQYLSSEGGDQTHPELEGTAVSGEEAEHTKEGTAEAFVNSKNAPAAERTLGARERTQDLAPLEKQSVGENTRVTKTHDQPVEEEDGYQGEDPESPFTQSDEGSSETPNSLASEEGNSSSETGELPVQGDSQSQGDQHGESVQGGHNNNPDTQRQGTPGEKNRALEAVVPAVRGEDVQLTEDQEQPARGEHKNQGPGTKGPGAAVEPNGHPEAQESTAGDENRKSLEIEITGALDEDFTDQLSLMQLPGKGDSRNELKVQGPSSKEEKGRATEAQNTLLESLDEDNSASLKIQLETKEPVTSEEEDESPQELAGEGGDQKSPAKKEHNSSVPWSSLEKQMQRDQEPCSVERGAVYSSPLYQYLQEKILQQTNVTQEEHQKQVQIAQASGPELCSVSLTSEISDCSVFFNYSQASQPYTRGLPLDESPAGAQETPAPQALEDKQGHPQRERLVLQREASTTKQ*

ENST00000368806.2 TCHHL1

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