ZMP
hmgcra
Ensembl ID:
ZFIN ID:
Description:
3-hydroxy-3-methylglutaryl-Coenzyme A reductase a [Source:RefSeq peptide;Acc:NP_001073446]
Human Orthologue:
HMGCR
Human Description:
3-hydroxy-3-methylglutaryl-CoA reductase [Source:HGNC Symbol;Acc:5006]
Mouse Orthologue:
Hmgcr
Mouse Description:
3-hydroxy-3-methylglutaryl-Coenzyme A reductase Gene [Source:MGI Symbol;Acc:MGI:96159]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa16920 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16920
Status:
Available for shipment
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:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000097460 | Nonsense | 810 | 884 | 18 | 20 |
Genomic Location (Zv9):
Chromosome 5 (position 52662460)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 50329656 |
| GRCz11 | 5 | 50976249 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCCCTCCATTGAGCTGGGCACTGTGGGTGGAGGCACYAACCTTCCTCCT[C/T]AACAGGCCTGTTTAAAGGTAYTTCCGCTGRATTTGGGATGATTAACTCNA
Long Flanking Sequence:
GATAAAGTTCATTTTGTACCCTATTCACCTAAAGTCTTTCCTTCAGTGCAATATAAATGTACATTTAAAAAAATATGAATCCACAAGTCTCACGCAACTGTTTCTGCTCAGATTTTAAAGACGTCGACTGAGGCTCTGGTGGACGTGAACATCAGCAAGAATTTGGTTGGATCTGCGATGGCTGGAAGCATCGGTGGTTATAACGCTCACGCCGCCAACATCGTAGCTGCTATCTATATTGCTTGTGGACAGGTAATGAAATCGATGTTATTTACAGTATGAGTTTGATAAGGAATATGATATCTGATTATAGATTTACAGTAGATGCAGATGTTTACATATGAAATTGTCCCTGACAGGACCCGGCGCAGACAGTGGGCAGCTCTAACTGTATCACTTTAATGGAGGCTTCAGGAGCTACAGGGGAGGATCTGTATATCAGCTGCACTATGCCCTCCATTGAGCTGGGCACTGTGGGTGGAGGCACTAACCTTCCTCCT[C/T]AACAGGCCTGTTTAAAGGTATTTCCGCTGGATTTGGGATGATTAACTCTACCCAAAAATTAAATCCTGTCATTAATTACCCTCAAATCATTAAAATTCTCTGACACCTTAATTAAACTTTGAGGAAGTTAGATGTTTTAGATGAAATCAGAGAGCTCTCTCATCCTCCATTGACAGCAATGGTCCCGAAATGTTCAGAAAAGGAACCAAAAACACTGCATTGGACTTGAGTGGTGCCAATGTAATCATATGAGCTCTATGAAGACTTTTGTGTGCCAAAATAAACTGAAAAACTGTTGCCTTTGACTTCCATATCAGGTCAGATTAGACTCTAATGGTAATATGTCATACTGGCTGTAGTTAACGCACACTCTGACCTAATGTGGGAATGAAGATTAGCAAACAAAGTCATGTTTACAGAAGTATTTTGGAGCTTTGTATGATTTTAGTTCCACCTCTGAAATCATATGAAATGCTTTGACAATGTTTTTGGTTCCTTAA
Associated Phenotype:
Not determined