ENST00000527316.6 DHCR7

Information
Transcript ID
ENST00000527316.6
Genome
hg19
Position
chr11:71,146,421-71,159,437
Strand
-
CDS length
1,254
Amino acid length
418
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
9 71,146,421 71,146,885
8 71,148,858 71,148,989
7 71,149,925 71,150,129
6 71,152,273 71,152,486
5 71,153,309 71,153,399
4 71,155,039 71,155,332
3 71,155,901 71,156,004
2 71,158,656 71,158,780
1 71,159,336 71,159,437
CDS
Exon number Type Start Stop
9 CDS 71,146,421 71,146,885
8 CDS 71,148,858 71,148,989
7 CDS 71,149,925 71,150,129
6 CDS 71,152,273 71,152,486
5 CDS 71,153,309 71,153,399
4 CDS 71,155,039 71,155,185
Other genome
Genome Chromosome Start End Links
hg38 chr11 71,435,375 71,448,391 Link
CDS sequence
ATGGCTTGTGACCAGTACAGCTGCGCCCTGACTGGCCCTGTGGTGGACATCGTCACCGGACATGCTCGGCTCTCGGACATCTGGGCCAAGACTCCACCTATAACGAGGAAAGCCGCCCAGCTCTATACCTTGTGGGTCACCTTCCAGGTGCTTCTGTACACGTCTCTCCCTGACTTCTGCCATAAGTTTCTACCCGGCTACGTAGGAGGCATCCAGGAGGGGGCCGTGACTCCTGCAGGGGTTGTGAACAAGTATCAGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCAAACGCTCATCTCCTGTCCTGGTTCTCGCCCACCATCATCTTCGACAACTGGATCCCACTGCTGTGGTGCGCCAACATCCTTGGCTATGCCGTCTCCACCTTCGCCATGGTCAAGGGCTACTTCTTCCCCACCAGCGCCAGAGACTGCAAATTCACAGGCAATTTCTTTTACAACTACATGATGGGCATCGAGTTTAACCCTCGGATCGGGAAGTGGTTTGACTTCAAGCTGTTCTTCAATGGGCGCCCCGGGATCGTCGCCTGGACCCTCATCAACCTGTCCTTCGCAGCGAAGCAGCGGGAGCTCCACAGCCATGTGACCAATGCCATGGTCCTGGTCAACGTCCTGCAGGCCATCTACGTGATTGACTTCTTCTGGAACGAAACCTGGTACCTGAAGACCATTGACATCTGCCATGACCACTTCGGGTGGTACCTGGGCTGGGGCGACTGTGTCTGGCTGCCTTATCTTTACACGCTGCAGGGTCTGTACTTGGTGTACCACCCCGTGCAGCTGTCCACCCCGCACGCCGTGGGCGTCCTGCTGCTGGGCCTGGTGGGCTACTACATCTTCCGGGTGGCCAACCACCAGAAGGACCTGTTCCGCCGCACGGATGGGCGCTGCCTCATCTGGGGCAGGAAGCCCAAGGTCATCGAGTGCTCCTACACATCCGCCGATGGGCAGAGGCACCACAGCAAGCTGCTGGTGTCGGGCTTCTGGGGCGTGGCCCGCCACTTCAACTACGTCGGCGACCTGATGGGCAGCCTGGCCTACTGCCTGGCCTGTGGCGGCGGCCACCTGCTGCCCTACTTCTACATCATCTACATGGCCATCCTGCTGACCCACCGCTGCCTCCGGGACGAGCACCGCTGCGCCAGCAAGTACGGCCGGGACTGGGAGCGCTACACCGCCGCAGTGCCTTACCGCCTGCTGCCTGGAATCTTCTAA
Amino sequence
MACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF*