Description
7-dehydrocholesterol reductase [Source:HGNC Symbol;Acc:2860]
Gene Synonyms
D7SR, SLOS
Location
Chromosome 11: 71,139,239-71,163,914 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 12 transcripts (splice variants), 2 paralogues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000355527.3 | DHCR7-001 | 2666 | 475aa | ENSP00000347717.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8200 | B4E1K5 E9PIP9 E9PJ54 E9PQ71 E9PRL8 Q9UBM7 | NM_001360.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000407721.2 | DHCR7-003 | 2601 | 475aa | ENSP00000384739.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8200 | B4E1K5 E9PIP9 E9PJ54 E9PQ71 E9PRL8 Q9UBM7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000527316.1 | DHCR7-006 | 1005 | 258aa | ENSP00000435047.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PM00 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000525137.1 | DHCR7-013 | 996 | 245aa | ENSP00000435956.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YEJ5 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000534795.1 | DHCR7-004 | 979 | 116aa | ENSP00000432256.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000526780.1 | DHCR7-011 | 968 | 164aa | ENSP00000435668.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PIP9 E9PJ54 E9PQ71 E9PRL8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000533800.1 | DHCR7-014 | 837 | 221aa | ENSP00000435011.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YE57 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000527452.1 | DHCR7-005 | 579 | 91aa | ENSP00000436007.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PRL8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000529990.1 | DHCR7-008 | 525 | 73aa | ENSP00000435058.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PLZ2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000525346.1 | DHCR7-010 | 523 | 108aa | ENSP00000435707.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PIP9 E9PQ71 E9PRL8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000531364.1 | DHCR7-009 | 507 | 105aa | ENSP00000432589.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PQ71 E9PRL8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000534701.1 | DHCR7-012 | 456 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
