ENST00000430002.6 PTH1R

Information
Transcript ID
ENST00000430002.6
Genome
hg38
Position
chr3:46,882,249-46,903,755
Strand
+
CDS length
1,782
Amino acid length
594
Gene symbol
PTH1R
Gene type
protein-coding
Gene description
parathyroid hormone 1 receptor
Gene Entrez Gene ID
5745
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
Search Word
Target data :
MGeND data only
Category :
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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
Search Word
Target data :
MGeND data only
Category :
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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 46,882,249 46,882,266
2 46,883,512 46,883,634
3 46,893,907 46,894,009
4 46,895,735 46,895,869
5 46,897,855 46,897,965
6 46,898,074 46,898,192
7 46,898,378 46,898,472
8 46,898,662 46,898,857
9 46,899,303 46,899,456
10 46,901,025 46,901,085
11 46,901,414 46,901,480
12 46,901,766 46,901,860
13 46,902,526 46,902,667
14 46,902,749 46,902,790
15 46,903,270 46,903,755
CDS
Exon number Type Start Stop
2 CDS 46,883,560 46,883,634
3 CDS 46,893,907 46,894,009
4 CDS 46,895,735 46,895,869
5 CDS 46,897,855 46,897,965
6 CDS 46,898,074 46,898,192
7 CDS 46,898,378 46,898,472
8 CDS 46,898,662 46,898,857
9 CDS 46,899,303 46,899,456
10 CDS 46,901,025 46,901,085
11 CDS 46,901,414 46,901,480
12 CDS 46,901,766 46,901,860
13 CDS 46,902,526 46,902,667
14 CDS 46,902,749 46,902,790
15 CDS 46,903,270 46,903,656
Other genome
Genome Chromosome Start End Links
hg19 chr3 46,923,739 46,945,245 Link
CDS sequence
ATGGGGACCGCCCGGATCGCACCCGGCCTGGCGCTCCTGCTCTGCTGCCCCGTGCTCAGCTCCGCGTACGCGCTGGTGGATGCAGATGACGTCATGACTAAAGAGGAACAGATCTTCCTGCTGCACCGTGCTCAGGCCCAGTGCGAAAAACGGCTCAAGGAGGTCCTGCAGAGGCCAGCCAGCATAATGGAATCAGACAAGGGATGGACATCTGCGTCCACATCAGGGAAGCCCAGGAAAGATAAGGCATCTGGGAAGCTCTACCCTGAGTCTGAGGAGGACAAGGAGGCACCCACTGGCAGCAGGTACCGAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGA
Amino sequence
MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQAQCEKRLKEVLQRPASIMESDKGWTSASTSGKPRKDKASGKLYPESEEDKEAPTGSRYRGRPCLPEWDHILCWPLGAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNGSWELVPGHNRTWANYSECVKFLTNETREREVFDRLGMIYTVGYSVSLASLTVAVLILAYFRRLHCTRNYIHMHLFLSFMLRAVSIFVKDAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAGCRVAVTFFLYFLATNYYWILVEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWVSVRATLANTGCWDLSSGNKKWIIQVPILASIVLNFILFINIVRVLATKLRETNAGRCDTRQQYRKLLKSTLVLMPLFGVHYIVFMATPYTEVSGTLWQVQMHYEMLFNSFQGFFVAIIYCFCNGEVQAEIKKSWSRWTLALDFKRKARSGSSSYSYGPMVSHTSVTNVGPRVGLGLPLSPRLLPTATTNGHPQLPGHAKPGTPALETLETTPPAMAAPKDDGFLNGSCSGLDEEASGPERPPALLQEEWETVM*