Description
vitamin D (1,25- dihydroxyvitamin D3) receptor [Source:HGNC Symbol;Acc:12679]
Gene Synonyms
NR1I1
Location
Chromosome 12: 48,235,320-48,336,831 reverse strand.
GRCh37:CM000674.1
About this gene
This gene has 9 transcripts (splice variants), 18 paralogues and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000229022.3 | VDR-201 | 4773 | 427aa | ENSP00000229022.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8757 | F1D8P8 F8VPF8 F8VRJ4 F8VVY8 F8VXQ9 P11473 Q6T928 T1WSQ6 | NM_001017535.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000395324.2 | VDR-001 | 4762 | 427aa | ENSP00000378734.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8757 | F1D8P8 F8VPF8 F8VRJ4 F8VVY8 F8VXQ9 P11473 Q6T928 T1WSQ6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000550325.1 | VDR-002 | 3925 | 477aa | ENSP00000447173.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55820 | F1D8P8 F8VPF8 F8VRJ4 F8VVY8 F8VXQ9 P11473 Q6T928 T1WSQ6 | NM_001017536.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000549336.1 | VDR-004 | 3554 | 427aa | ENSP00000449573.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8757 | F1D8P8 F8VPF8 F8VRJ4 F8VVY8 F8VXQ9 P11473 Q6T928 T1WSQ6 | NM_000376.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000535672.1 | VDR-202 | 1782 | 395aa | ENSP00000442145.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DRV7 Q6T928 T1WSQ6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000546653.1 | VDR-007 | 937 | 250aa | ENSP00000448659.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VPF8 F8VRJ4 F8VVY8 F8VXQ9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000548664.1 | VDR-006 | 596 | 101aa | ENSP00000450105.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VPF8 F8VXQ9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000550314.1 | VDR-008 | 562 | 106aa | ENSP00000449561.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VPF8 F8VVY8 F8VXQ9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000547065.1 | VDR-003 | 1782 | 49aa | ENSP00000449074.1 | Nonsense mediated decay | F8VXQ9 | - | - |
