ENST00000682708.1 DHCR7

Information
Transcript ID
ENST00000682708.1
Genome
hg19
Position
chr11:71,145,467-71,159,481
Strand
-
CDS length
1,479
Amino acid length
493
Gene symbol
DHCR7
Gene type
protein-coding
Gene description
7-dehydrocholesterol reductase
Gene Entrez Gene ID
1717
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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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
10 71,145,467 71,146,885
9 71,148,858 71,148,989
8 71,149,925 71,150,129
7 71,151,832 71,151,882
6 71,152,273 71,152,486
5 71,153,309 71,153,399
4 71,155,039 71,155,261
3 71,155,901 71,156,004
2 71,158,656 71,158,780
1 71,159,336 71,159,481
CDS
Exon number Type Start Stop
10 CDS 71,146,421 71,146,885
9 CDS 71,148,858 71,148,989
8 CDS 71,149,925 71,150,129
7 CDS 71,151,832 71,151,882
6 CDS 71,152,273 71,152,486
5 CDS 71,153,309 71,153,399
4 CDS 71,155,039 71,155,261
3 CDS 71,155,901 71,155,998
Other genome
Genome Chromosome Start End Links
hg38 chr11 71,434,421 71,448,435 Link
CDS sequence
ATGGCTGCAAAATCGCAACCCAACATTCCCAAAGCCAAGAGTCTAGATGGCGTCACCAATGACAGAACCGCATCTCAAGGGCAGTGGGGCCGTGCCTGGGAGGTGGACTGGTTTTCACTGGCGAGCGTCATCTTCCTACTGCTGTTCGCCCCCTTCATCGTCTACTACTTCATCATGGCTTGTGACCAGTACAGCTGCGCCCTGACTGGCCCTGTGGTGGACATCGTCACCGGACATGCTCGGCTCTCGGACATCTGGGCCAAGACTCCACCTATAACGAGGAAAGCCGCCCAGCTCTATACCTTGTGGGTCACCTTCCAGGTGCTTCTGTACACGTCTCTCCCTGACTTCTGCCATAAGTTTCTACCCGGCTACGTAGGAGGCATCCAGGAGGGGGCCGTGACTCCTGCAGGGGTTGTGAACAAGTATCAGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCAAACGCTCATCTCCTGTCCTGGTTCTCGCCCACCATCATCTTCGACAACTGGATCCCACTGCTGTGGTGCGCCAACATCCTTGGCTATGCCGTCTCCACCTTCGCCATGGTCAAGGGCTACTTCTTCCCCACCAGCGCCAGAGACTGCTTCCCAGGAGAGCCCTGCTGGCTTGTACCCATTCCCATGGCTGGACAGTGCAAATTCACAGGCAATTTCTTTTACAACTACATGATGGGCATCGAGTTTAACCCTCGGATCGGGAAGTGGTTTGACTTCAAGCTGTTCTTCAATGGGCGCCCCGGGATCGTCGCCTGGACCCTCATCAACCTGTCCTTCGCAGCGAAGCAGCGGGAGCTCCACAGCCATGTGACCAATGCCATGGTCCTGGTCAACGTCCTGCAGGCCATCTACGTGATTGACTTCTTCTGGAACGAAACCTGGTACCTGAAGACCATTGACATCTGCCATGACCACTTCGGGTGGTACCTGGGCTGGGGCGACTGTGTCTGGCTGCCTTATCTTTACACGCTGCAGGGTCTGTACTTGGTGTACCACCCCGTGCAGCTGTCCACCCCGCACGCCGTGGGCGTCCTGCTGCTGGGCCTGGTGGGCTACTACATCTTCCGGGTGGCCAACCACCAGAAGGACCTGTTCCGCCGCACGGATGGGCGCTGCCTCATCTGGGGCAGGAAGCCCAAGGTCATCGAGTGCTCCTACACATCCGCCGATGGGCAGAGGCACCACAGCAAGCTGCTGGTGTCGGGCTTCTGGGGCGTGGCCCGCCACTTCAACTACGTCGGCGACCTGATGGGCAGCCTGGCCTACTGCCTGGCCTGTGGCGGCGGCCACCTGCTGCCCTACTTCTACATCATCTACATGGCCATCCTGCTGACCCACCGCTGCCTCCGGGACGAGCACCGCTGCGCCAGCAAGTACGGCCGGGACTGGGAGCGCTACACCGCCGCAGTGCCTTACCGCCTGCTGCCTGGAATCTTCTAA
Amino sequence
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCFPGEPCWLVPIPMAGQCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF*