ZMP
VDR (1 of 2)
Ensembl ID:
Description:
vitamin D (1,25- dihydroxyvitamin D3) receptor [Source:HGNC Symbol;Acc:12679]
Human Orthologue:
VDR
Human Description:
vitamin D (1,25- dihydroxyvitamin D3) receptor [Source:HGNC Symbol;Acc:12679]
Mouse Orthologue:
Vdr
Mouse Description:
vitamin D receptor Gene [Source:MGI Symbol;Acc:MGI:103076]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39430 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39430
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000063214 | Nonsense | 159 | 327 | 5 | 7 |
Genomic Location (Zv9):
Chromosome 23 (position 46203561)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 45978416 |
| GRCz11 | 23 | 45823416 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTGAATCTGATATCTGTGTGTGTGTGTGTGTTTCAGAGACCTGACGGCT[G/T]AAGATCAGATCGCTCTGCTGAAGTCCAGCGCCATCGAGATCATCATGCTG
Long Flanking Sequence:
GTGTGTGTGTGTGTGTGCAGAGTCGGTGGACACCAAGCTGAACTTCAGTAATCTGCTGATGATGTATCAGGACAGTGGCAGTCCAGACTCCAGTGAGGAGGATCAGCAGTCCCGGCTCTCCATGCTGCCGCACCTCGCAGACCTCGTCAGCTACAGCATACAGAAGGTCATCGGCTTCGCCAAGATGATCCCCGGCTTCAGGTCAGGACACACACACACAAACACACACATATACAGGGGTAGACTGCACCAAAAAAAGCTGAGGAGCGAATTACTGGAGTTTTCCAGGAGAAATAACAAAACGGGAGGGTGGTGGGAGATGTGTCTGAAACACGGGAGACTGCGGGGGAAACGGCGGTGTTGGCAGGTGTGGGCGTGGCTGTAGTTGTAGTCAACAATATTAACCCTGTATGCAATGACCACAGATGATGTGTGTGTGTGTGTGTGTTTGCTGAATCTGATATCTGTGTGTGTGTGTGTGTTTCAGAGACCTGACGGCT[G/T]AAGATCAGATCGCTCTGCTGAAGTCCAGCGCCATCGAGATCATCATGCTGAGGTCCAACCAGTCCTTCAGTCTGGAGGACATGAGCTGGAGCTGCGGAGGACCAGACTTCAAATACTGCATCAACGACGTCACTAAGGGTAACACACACACACACACATACACATACACACACACATACACACCAGACTTCAAATACTGCATCAACGCCGTCACTAAGGGTAACACACACACACACACACATACACACCAGACTTCAAATACTGCATCAACGACGTCGTTGATGCAGTATTTGAAATCTGGTGTGTATGAGTGTGTGTGTGTGTGTGTGTGTGTGTTACCCTTAGTGACGTCGTTGATGCAGTATTTGAAATCTGGTGTGGTATGAGTGTGTGTGTGTGTGTGTGTGTGTTACCCTTAGTGACGTCGTTGATGCAGTATTTGAAATCTGGTGTGTATGAGTGTGTGTGTGTGTGTGTGTGTGTTACCCTTAGTGATGTCG
Associated Phenotype:
Not determined