Information

Transcript ID: ENST00000614923.2
Genome: hg19
Position: chr1:152,078,793-152,087,920
Strand: -
CDS length: 5,832
Amino acid length: 1,944
Gene symbol: TCHH
Gene type: protein-coding
Gene description: trichohyalin
Gene Entrez Gene ID: 7062

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

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

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
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	152,078,793	152,085,554
2	152,086,419	152,086,587
1	152,087,867	152,087,920

CDS

Exon number	Type	Start	Stop
3	CDS	152,079,861	152,085,554
2	CDS	152,086,419	152,086,556

Other genome

Genome	Chromosome	Start	End	Links
hg38	chr1	152,106,317	152,115,444	Link

CDS sequence

ATGTCTCCACTTCTGAGAAGCATCTGTGACATCACTGAAATTTTCAATCAGTATGTCTCTCATGATTGTGATGGAGCAGCATTAACTAAGAAAGACCTGAAGAACCTCCTTGAAAGGGAATTTGGAGCTGTGCTTCGGAGACCACATGACCCTAAGACGGTAGATCTGATCCTGGAACTTCTGGATCTTGACAGTAATGGGCGTGTCGATTTCAACGAATTCCTCCTATTTATTTTCAAAGTGGCTCAAGCTTGTTACTATGCTCTCGGCCAGGCCACGGGACTGGATGAGGAGAAGCGAGCCCGGTGTGACGGAAAGGAGAGCCTGTTACAAGATCGCAGGCAAGAAGAAGACCAAAGGAGATTCGAGCCCCGGGACAGACAACTGGAAGAAGAACCTGGGCAACGACGCAGGCAGAAGAGGCAGGAACAGGAGAGGGAGCTAGCTGAGGGAGAGGAGCAAAGTGAGAAACAAGAGCGACTTGAACAGCGCGACAGGCAGCGCCGCGACGAGGAGCTGTGGCGGCAAAGGCAAGAATGGCAAGAACGGGAAGAGCGCCGTGCAGAGGAAGAGCAGCTGCAGAGTTGCAAAGGTCACGAAACTGAGGAGTTTCCAGACGAAGAGCAACTGCGAAGGCGGGAGCTGCTGGAGCTGAGGAGGAAGGGCCGCGAGGAGAAACAGCAGCAAAGGCGAGAGCGGCAAGACAGAGTGTTCCAGGAGGAAGAAGAGAAAGAGTGGAGGAAGCGCGAGACAGTGCTCCGGAAGGAAGAAGAGAAGTTGCAGGAAGAGGAGCCGCAGCGGCAAAGAGAGCTCCAGGAGGAAGAAGAGCAGCTACGGAAGCTGGAGCGGCAAGAGCTGAGGAGGGAGCGCCAGGAGGAAGAGCAGCAGCAGCAAAGGCTGAGGCGCGAGCAGCAACTAAGGCGCAAGCAGGAGGAGGAGAGGCGCGAGCAGCAGGAGGAGAGGCGCGAGCAGCAGGAGAGGCGCGAGCAGCAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGGAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGGAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGGAGGAGGAGAGGCACGAGCAGAAGCACGAGCAGGAGAGGCGCGAGCAGCGGCTGAAGCGCGAGCAGGAGGAGAGGCGCGATTGGCTGAAGCGCGAGGAGGAGACGGAGAGGCACGAGCAGGAGAGGCGCAAGCAGCAGCTGAAGCGCGACCAGGAGGAGGAGAGGCGCGAACGTTGGCTGAAGCTCGAGGAGGAGGAGAGGCGCGAGCAGCAGGAGAGGCGCGAGCAGCAACTAAGGCGGGAGCAAGAGGAGAGGCGCGAGCAGCGGCTGAAGCGCCAGGAGGAGGAAGAGAGGCTCCAGCAGCGGTTGAGGAGCGAGCAACAACTAAGACGCGAGCAGGAGGAGAGGCGCGAGCAGCTGCTGAAGCGCGAGGAGGAGAAGAGGCTCGAGCAGGAGAGGCGAGAGCAGCGGCTGAAGCGCGAGCAGGAGGAGAGGCGCGATCAGCTGCTGAAGCGCGAGGAGGAGAGGCGCCAGCAGCGGCTGAAGCGCGAGCAGGAAGAGAGGCTCGAGCAGCGACTGAAGCGCGAGGAGGTGGAGAGACTCGAGCAGGAGGAGAGGCGCGAGCAGCGGCTGAAGCGCGAGGAGCCGGAGGAAGAGAGGCGCCAGCAGCTGCTGAAGAGCGAGGAGCAGGAGGAGAGGCGCCAGCAGCAACTAAGGCGCGAGCAGCAGGAAAGGCGCGAGCAGCGGCTGAAGCGCGAGGAGGAGGAAGAGAGGCTCGAGCAGCGGCTGAAGCGCGAGCATGAGGAAGAGAGGCGCGAGCAGGAGCTAGCTGAGGAGGAGCAGGAACAGGCCCGGGAGCGGATTAAGAGCCGCATCCCGAAGTGGCAGTGGCAGCTAGAAAGCGAGGCCGACGCACGGCAAAGCAAAGTCTACTCGAGGCCCCGCAAGCAGGAAGGGCAGAGGCGCCGCCAAGAGCAGGAGGAAAAGAGGCGGCGCCGGGAGAGTGAGCTGCAATGGCAGGAGGAGGAACGGGCTCACCGGCAGCAGCAGGAAGAGGAGCAGCGCCGGGACTTCACATGGCAGTGGCAGGCGGAGGAAAAGAGCGAGAGGGGCCGTCAGAGGCTGTCGGCCAGGCCCCCATTGCGGGAGCAGCGGGAGAGGCAGCTGAGGGCCGAGGAGCGCCAGCAGCGGGAACAACGGTTTCTCCCGGAGGAGGAGGAGAAGGAGCAGCGGCGCCGCCAGCGACGCGAGAGGGAGAAAGAGCTGCAGTTCCTGGAGGAAGAGGAGCAGCTCCAGCGGCGGGAGCGTGCCCAACAGCTCCAGGAGGAGGAGGACGGCCTCCAGGAGGATCAGGAGAGGAGGCGAAGCCAGGAGCAGCGCCGCGACCAAAAATGGAGGTGGCAACTAGAAGAAGAAAGGAAGAGACGCCGCCACACGCTGTACGCCAAGCCAGCCCTACAAGAGCAGCTGAGGAAGGAACAGCAGCTGCTGCAGGAGGAGGAGGAGGAGCTACAGAGAGAGGAGCGCGAGAAGAGAAGGCGCCAAGAACAGGAGAGACAATACCGCGAGGAAGAGCAGCTGCAGCAGGAGGAAGAGCAGCTGCTGAGAGAGGAACGGGAGAAAAGAAGACGCCAGGAGCGGGAAAGGCAATATCGGAAGGATAAGAAGCTGCAGCAGAAGGAAGAGCAGCTGCTGGGAGAGGAACCGGAGAAGAGAAGGCGCCAGGAGCGGGAGAAAAAATACCGCGAGGAAGAGGAGTTGCAGCAGGAGGAAGAGCAGCTGCTGAGAGAGGAACGGGAGAAGAGAAGGCGCCAGGAGTGGGAGAGGCAGTACCGCAAAAAAGACGAGCTGCAGCAGGAAGAAGAGCAGCTGCTGAGAGAGGAACGGGAGAAAAGAAGACTCCAGGAGCGGGAGAGGCAATATCGGGAGGAAGAGGAGCTGCAGCAGGAGGAAGAGCAGCTGCTGGGAGAGGAACGGGAGACGAGAAGGCGCCAGGAGCTGGAGAGGCAATATCGGAAGGAAGAGGAGCTGCAGCAGGAGGAAGAGCAGCTGCTGAGAGAGGAACCGGAGAAGAGAAGGCGCCAGGAGCGGGAGAGGCAATGTCGGGAGGAAGAGGAGCTGCAGCAGGAGGAAGAGCAGCTGCTGAGAGAGGAACGGGAGAAGAGAAGGCGCCAGGAGCTGGAGAGGCAATATCGGGAGGAAGAGGAGGTGCAGCAGGAGGAAGAGCAGCTGCTGAGAGAGGAACCGGAGAAGAGAAGGCGCCAGGAGCTGGAGAGGCAATACCGCGAGGAAGAGGAGCTGCAGCAGGAGGAAGAGCAGCTGCTGAGAGAGGAACAGGAGAAAAGGCGCCAGGAGCGGGAGAGGCAGTATCGGGAGGAGGAAGAGCTTCAGCGCCAGAAAAGGAAGCAGCGATACCGGGATGAGGATCAGCGCAGTGATCTGAAATGGCAGTGGGAACCAGAAAAAGAAAATGCAGTTCGTGATAACAAGGTTTACTGCAAAGGCAGAGAGAATGAACAGTTCCGGCAGTTGGAAGATTCCCAGCTGCGCGACAGACAATCCCAGCAAGATCTGCAGCACCTGCTGGGTGAACAGCAAGAGCGAGATCGTGAGCAAGAGAGGAGGCGCTGGCAGCAGCGCGACAGGCATTTCCCAGAGGAAGAACAGCTGGAGCGAGAAGAGCAAAAGGAAGCCAAAAGGCGCGACAGGAAGTCCCAAGAGGAAAAGCAGTTGCTGAGAGAGGAAAGAGAAGAGAAGAGACGCCGTCAAGAGACAGACAGAAAATTCCGCGAGGAGGAACAGCTGCTCCAGGAAAGGGAGGAACAGCCGCTGCGCCGCCAAGAGCGTGACAGAAAATTCCGCGAAGAGGAACTGCGCCATCAGGAACAAGGGAGAAAATTCCTCGAGGAGGAACAGCGGCTGCGCCGCCAGGAACGGGAGAGAAAATTCCTTAAGGAGGAACAGCAGCTGCGCTGCCAGGAGCGCGAGCAACAGCTGCGTCAGGACCGCGACAGAAAATTCCGCGAGGAGGAACAGCAGCTGAGCCGCCAAGAGCGTGACAGAAAATTCCGTGAAGAGGAACAGCAGGTGCGCCGCCAGGAACGAGAGAGAAAATTCCTGGAGGAGGAACAGCAGCTGCGCCAGGAGCGTCACAGAAAATTCCGCGAAGAGGAACAGCTGCTCCAGGAAAGGGAAGAACAGCAGCTGCACCGCCAAGAGCGTGACAGAAAATTCCTGGAGGAGGAACAACAGCTGCGCCGCCAAGAGCGTGACAGAAAATTCCGCGAACAGGAACTGCGCAGTCAGGAACCAGAGAGAAAATTCCTCGAGGAGGAACAGCAGCTGCACCGCCAGCAACGGCAGAGAAAATTCCTCCAGGAGGAACAGCAGCTGCGCCGCCAGGAGCGCGGGCAACAGCGGCGTCAGGACCGTGACAGAAAATTCCGCGAGGAGGAACAGCTGCGCCAGGAGAGGGAGGAACAGCAGCTGAGCCGCCAAGAGCGTGACAGAAAATTCCGTTTAGAGGAACAGAAAGTGCGCCGCCAGGAACAAGAGAGAAAATTCATGGAGGACGAACAGCAGCTGCGCCGCCAGGAGGGCCAACAACAGCTGCGCCAGGAGCGCGACAGAAAATTCCGCGAAGACGAACAGCTGCTCCAGGAAAGGGAAGAACAGCAGCTGCACCGCCAAGAGCGTGACAGAAAATTCCTCGAGGAGGAACCGCAGCTGCGCCGCCAGGAGCGCGAACAACAGCTGCGTCACGACCGCGACAGAAAATTCCGTGAAGAGGAACAGCTGCTCCAGGAAGGGGAGGAACAGCAGCTGCGCCGCCAAGAGCGTGACAGAAAATTCCGCGAAGAGGAACAGCAGCTCCGCCGTCAGGAACGAGAGAGAAAATTCCTCCAGGAGGAACAGCAGCTGCGCCGCCAGGAACTGGAGAGAAAATTCCGTGAGGAGGAACAGCTGCGCCAAGAAACGGAGCAAGAGCAGCTGCGCCGCCAAGAACGCTACAGAAAAATCCTAGAGGAAGAGCAGCTCCGTCCGGAAAGGGAAGAACAGCAGCTGCGCCGCCAGGAGCGCGACAGAAAATTCCGCGAGGAGGAACAGCTCCGCCAGGAGAGGGAGGAACAGCAGCTGCGCAGCCAAGAGTCTGACAGAAAATTCCGCGAGGAGGAACAGCTACGCCAGGAGAGGGAAGAACAGCAGCTGCGCCCCCAACAGCGTGACGGAAAGTATCGCTGGGAAGAAGAGCAGCTCCAACTTGAGGAACAAGAGCAGAGGCTGCGGCAGGAGCGAGACCGGCAGTACCGGGCGGAGGAGCAGTTTGCCACGCAGGAGAAGAGTCGTCGTGAGGAACAAGAACTATGGCAAGAAGAGGAGCAGAAACGTCGCCAGGAACGGGAAAGGAAATTACGGGAAGAACACATCCGCCGCCAGCAGAAGGAGGAACAGAGGCACCGCCAAGTCGGGGAGATAAAATCCCAAGAAGGGAAGGGCCATGGGCGGCTTCTGGAGCCCGGCACTCATCAGTTTGCCAGTGTCCCAGTGCGCTCCAGCCCTCTCTATGAGTACATCCAAGAGCAGAGATCTCAATACCGCCCTTAA

Amino sequence

MSPLLRSICDITEIFNQYVSHDCDGAALTKKDLKNLLEREFGAVLRRPHDPKTVDLILELLDLDSNGRVDFNEFLLFIFKVAQACYYALGQATGLDEEKRARCDGKESLLQDRRQEEDQRRFEPRDRQLEEEPGQRRRQKRQEQERELAEGEEQSEKQERLEQRDRQRRDEELWRQRQEWQEREERRAEEEQLQSCKGHETEEFPDEEQLRRRELLELRRKGREEKQQQRRERQDRVFQEEEEKEWRKRETVLRKEEEKLQEEEPQRQRELQEEEEQLRKLERQELRRERQEEEQQQQRLRREQQLRRKQEEERREQQEERREQQERREQQEERREQQLRREQEERREQQLRREQEEERREQQLRREQEEERREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQEEERHEQKHEQERREQRLKREQEERRDWLKREEETERHEQERRKQQLKRDQEEERRERWLKLEEEERREQQERREQQLRREQEERREQRLKRQEEEERLQQRLRSEQQLRREQEERREQLLKREEEKRLEQERREQRLKREQEERRDQLLKREEERRQQRLKREQEERLEQRLKREEVERLEQEERREQRLKREEPEEERRQQLLKSEEQEERRQQQLRREQQERREQRLKREEEEERLEQRLKREHEEERREQELAEEEQEQARERIKSRIPKWQWQLESEADARQSKVYSRPRKQEGQRRRQEQEEKRRRRESELQWQEEERAHRQQQEEEQRRDFTWQWQAEEKSERGRQRLSARPPLREQRERQLRAEERQQREQRFLPEEEEKEQRRRQRREREKELQFLEEEEQLQRRERAQQLQEEEDGLQEDQERRRSQEQRRDQKWRWQLEEERKRRRHTLYAKPALQEQLRKEQQLLQEEEEELQREEREKRRRQEQERQYREEEQLQQEEEQLLREEREKRRRQERERQYRKDKKLQQKEEQLLGEEPEKRRRQEREKKYREEEELQQEEEQLLREEREKRRRQEWERQYRKKDELQQEEEQLLREEREKRRLQERERQYREEEELQQEEEQLLGEERETRRRQELERQYRKEEELQQEEEQLLREEPEKRRRQERERQCREEEELQQEEEQLLREEREKRRRQELERQYREEEEVQQEEEQLLREEPEKRRRQELERQYREEEELQQEEEQLLREEQEKRRQERERQYREEEELQRQKRKQRYRDEDQRSDLKWQWEPEKENAVRDNKVYCKGRENEQFRQLEDSQLRDRQSQQDLQHLLGEQQERDREQERRRWQQRDRHFPEEEQLEREEQKEAKRRDRKSQEEKQLLREEREEKRRRQETDRKFREEEQLLQEREEQPLRRQERDRKFREEELRHQEQGRKFLEEEQRLRRQERERKFLKEEQQLRCQEREQQLRQDRDRKFREEEQQLSRQERDRKFREEEQQVRRQERERKFLEEEQQLRQERHRKFREEEQLLQEREEQQLHRQERDRKFLEEEQQLRRQERDRKFREQELRSQEPERKFLEEEQQLHRQQRQRKFLQEEQQLRRQERGQQRRQDRDRKFREEEQLRQEREEQQLSRQERDRKFRLEEQKVRRQEQERKFMEDEQQLRRQEGQQQLRQERDRKFREDEQLLQEREEQQLHRQERDRKFLEEEPQLRRQEREQQLRHDRDRKFREEEQLLQEGEEQQLRRQERDRKFREEEQQLRRQERERKFLQEEQQLRRQELERKFREEEQLRQETEQEQLRRQERYRKILEEEQLRPEREEQQLRRQERDRKFREEEQLRQEREEQQLRSQESDRKFREEEQLRQEREEQQLRPQQRDGKYRWEEEQLQLEEQEQRLRQERDRQYRAEEQFATQEKSRREEQELWQEEEQKRRQERERKLREEHIRRQQKEEQRHRQVGEIKSQEGKGHGRLLEPGTHQFASVPVRSSPLYEYIQEQRSQYRP*

ENST00000614923.2 TCHH

Display target variant

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