ZMP
zgc:113142
Ensembl ID:
ZFIN ID:
Description:
hypothetical protein LOC503524 [Source:RefSeq peptide;Acc:NP_001012506]
Human Orthologues:
BDH1, HSD11B2, HSD17B2
Human Descriptions:
3-hydroxybutyrate dehydrogenase, type 1 [Source:HGNC Symbol;Acc:1027]
hydroxysteroid (11-beta) dehydrogenase 2 [Source:HGNC Symbol;Acc:5209]
hydroxysteroid (17-beta) dehydrogenase 2 [Source:HGNC Symbol;Acc:5211]
hydroxysteroid (11-beta) dehydrogenase 2 [Source:HGNC Symbol;Acc:5209]
hydroxysteroid (17-beta) dehydrogenase 2 [Source:HGNC Symbol;Acc:5211]
Mouse Orthologues:
Bdh1, Hsd11b2, Hsd17b2
Mouse Descriptions:
3-hydroxybutyrate dehydrogenase, type 1 Gene [Source:MGI Symbol;Acc:MGI:1919161]
hydroxysteroid (17-beta) dehydrogenase 2 Gene [Source:MGI Symbol;Acc:MGI:1096386]
hydroxysteroid 11-beta dehydrogenase 2 Gene [Source:MGI Symbol;Acc:MGI:104720]
hydroxysteroid (17-beta) dehydrogenase 2 Gene [Source:MGI Symbol;Acc:MGI:1096386]
hydroxysteroid 11-beta dehydrogenase 2 Gene [Source:MGI Symbol;Acc:MGI:104720]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa36541 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa9901 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa36541
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000056886 | Essential Splice Site | 129 | 359 | 2 | 5 |
Genomic Location (Zv9):
Chromosome 17 (position 52159474)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 51544129 |
GRCz11 | 17 | 51633164 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATATCAGCTCAGCCAAGGATTTTGTAGAAGCAAACTTGCCAGTGAAAGG[T/G]AACTCAACGCTGAAAGAACCAAATACAGGAAAATGCAGCAACAAAAGTCT
Long Flanking Sequence:
TTGTTGAAGGGGAAAAGCTGATGATGAAGATCCCTCAATCCACCTTGGCTTTGTTTGAAACTATTTTCCTTTTTTTTTTTTTTTGGTCAATTAAAGGTTGCGAGACGAGTCAAGATGAAGGCAGAACTTCTCAGCGTTTCCGTCCTGCTCCTCTCCTACATCTGCTTGAGTGATCACATTTGTACGTACTGCGCTCTCGTGGTCTGCTTGGTGGTCTTGGCGAACACCTTGCGCCAGACTGAAGAAGGCCTGTGGGATGGTTTTGGCCGGGCAGTGCTGATAACAGGCTGTGACAGTGGATTTGGCTATCACCTTGCAAAAAAACTGGACCTCATGGGCTTCACCGTGTTTGCTGGATGTTTGTGTCCTGAAGGTCCTGGAGCTCGAAGTCTTGTGGAGGAAAGCTCAAAGCGAGTGAAGATCCTTCAGCTGGACGTGACCAATGAGGAACATATCAGCTCAGCCAAGGATTTTGTAGAAGCAAACTTGCCAGTGAAAGG[T/G]AACTCAACGCTGAAAGAACCAAATACAGGAAAATGCAGCAACAAAAGTCTTTCGTCCTTTAGATTTTGTTATTGGAGGACTTTAACCAGTGCTTAGTTTAAATAGTTACAAAGTAGTTATAATATGTTCAATGCATTGCTAAGAACTTGATTTGTACTCACTGGTTAGCACTGTTGTCTCACAAAAACGAAGGTCACCGGTTTGAATTCCGGCTGGGCCATGTGGCATTATTGTGTGTTTGTTCTGTACCTATTTATTCCGGTGATGTATAAATAGCAATATCCAAAAACTGACCCATAGGGCTGGTTTTGTGGTCCCGCGTCACCAAATTTGAATCCATTTTCAGGTCTGTATGCCGTTGTGAACAATGCTGGCGTCAGTGACTGGGGCGAGACGGAGTGGAGTACGGCTGAGGACTTCCAGAAGATGGCCGATGTGAACCTGTTCGGCGCCATCAGAGTCACCATCCCATTCCTGCCTCTTGTTAGAGCTTCTAAAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9901
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 |
---|---|---|---|---|---|
ENSDART00000056886 | Nonsense | 154 | 359 | 3 | 5 |
Genomic Location (Zv9):
Chromosome 17 (position 52159895)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 51544550 |
GRCz11 | 17 | 51633585 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTKGCRTCAGTGACTGGGGCGAGACGGAGTGGAGTACGGCTGAGGACTTC[C/T]AGAAGATGGCSGATGTGAACCTGTTCGGCGCCATCAGAGTCACCATCMCA
Long Flanking Sequence:
TCCTTCAGCTGGACGTGACCAATGAGGAACATATCAGCTCAGCCAAGGATTTTGTAGAAGCAAACTTGCCAGTGAAAGGTAACTCAACGCTGAAAGAACCAAATACAGGAAAATGCAGCAACAAAAGTCTTTCGTCCTTTAGATTTTGTTATTGGAGGACTTTAACCAGTGCTTAGTTTAAATAGTTACAAAGTAGTTATAATATGTTCAATGCATTGCTAAGAACTTGATTTGTACTCACTGGTTAGCACTGTTGTCTCACAAAAACGAAGGTCACCGGTTTGAATTCCGGCTGGGCCATGTGGCATTATTGTGTGTTTGTTCTGTACCTATTTATTCCGGTGATGTATAAATAGCAATATCCAAAAACTGACCCATAGGGCTGGTTTTGTGGTCCCGCGTCACCAAATTTGAATCCATTTTCAGGTCTGTATGCCGTTGTGAACAATGCTGGCGTCAGTGACTGGGGCGAGACGGAGTGGAGTACGGCTGAGGACTTC[C/T]AGAAGATGGCCGATGTGAACCTGTTCGGCGCCATCAGAGTCACCATCCCATTCCTGCCTCTTGTTAGAGCTTCTAAAGGTCACTGATTGCCTCTATTCTGACTCCTTTAATCCTTATTCTTTGCCGTTTCAAAATAAAAGTCCTGTCAGATTAACCCCAACATGCACAAAGTCCATCTCTGGCTTTAATCTGCATTTTTGTGAAACTGTAAAAACGATATCAAACAGACGTTTGACTGCAGTTTGTTGGAAAAATGAACACTAGGGGGCAGTATGACAACATCTTTGGTTATTATCAATATATAAAAGATTATTTACGTGAAGTTCTTTGCGTAACACCAAATAAATATCAGAAAATAACTTAACGCTGTCTATGATTTGCAATGAACAGGTTTGCATCGCTTATCTATTTCCATATGGACACTTTTCTGGTGTGGTCAGTTTGTATGCTATTGTGCTTGTGCTGTTCGAGTTCAGAGATAAAATCAATGTAAAATCAAG
Associated Phenotype:
Not determined