Description
7-dehydrocholesterol reductase [Source:HGNC Symbol;Acc:2860]
Gene Synonyms
D7SR, SLOS
Location
Chromosome 11: 71,145,460-71,159,481 reverse strand.
About this transcript
This transcript has 9 exons, is annotated with 12 domains and features, is associated with 7374 variant alleles and maps to 459 oligo probes.
Gene
This transcript is a product of gene ENSG00000172893.11 Show transcript tableHide transcript table
| 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 | 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 | - | - | - |