ZMP
sccpdha
Ensembl ID:
ZFIN ID:
Description:
saccharopine dehydrogenase a [Source:RefSeq peptide;Acc:NP_001002359]
Human Orthologue:
SCCPDH
Human Description:
saccharopine dehydrogenase (putative) [Source:HGNC Symbol;Acc:24275]
Mouse Orthologue:
Sccpdh
Mouse Description:
saccharopine dehydrogenase (putative) Gene [Source:MGI Symbol;Acc:MGI:1924486]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14451 | Essential Splice Site | Available for shipment | Available now |
sa23013 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14451
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000046802 | Essential Splice Site | 66 | 427 | 1 | 12 |
ENSDART00000114668 | Essential Splice Site | 66 | 466 | 1 | 13 |
Genomic Location (Zv9):
Chromosome 17 (position 12023200)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 12005722 |
GRCz11 | 17 | 12159788 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGCAAACCCAAACTGGAGAAAGTTATCGAGCAAGCCGCTGCAAATCTCG[G/A]TGAGWGAAGAAGACAACWCCAAATTRTGTACACTTTAAATAAGTGAGCGA
Long Flanking Sequence:
GACGCATTTCGTATTCGGCCAATACAACGTGCTTTCACTTAAAACATAAAACTTTTTTGTGATTACAACTATTTCTATGAATATGTTGATCAAATCCTCCACAGGGTGTCTAAATCATTTTTTTGCTTATTATAACAGAAGCTGCGCATACAGAGCTGCGCACTGATAATCATCTTGAGTGGACATTTGAAAGGCGTTTACGGAAGAATGTTGAACTGTCAGGTGTTTCTCACGCACGCATGTTCGCAGTTAGTCTGTCTCTTCCAGTCAGAACGGACAGCAGCTCCACAGCCATAAAGCCATGACGGCGTTCAGCACCTCACCCGGCAGACCCTACCACATTATCATCTTCGGCGCTTCAGGCTTCACAGGACAGTTTGTGGTGGAGGAAGTGTCTCGCTGCGCGTCCGAGGGTCCCAAGGGGAGTTTGAAATGGGCCGTCGCGGGCAGAAGCAAACCCAAACTGGAGAAAGTTATCGAGCAAGCCGCTGCAAATCTCG[G/A]TGAGTGAAGAAGACAACTCCAAATTGTGTACACTTTAAATAAGTGAGCGAATCTAAAGTCGACTTTTCTGGGGGTTTATTTGCTGTGATGAGAGTAAACCGATATATTACTTAAAATATATGAGTAACTAACTTTTATATTAAGCAACTTGTTTGTTACTTAATATTAATTTTGTTCTTTTTTATTGAAAATTATGTTAAAAAAGGAGTTTTTAAGACTGATATCTAATATTACTTTAGTACCAACTAACATTTTATACTTACTGTGTTTATGTTAAATCATAAAGAATACCACAGATATATATGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATACAACAGTTTTGTCTGGTTCTCGAATCTGATTGGCTGATAGCTGTGATATATTTAAGTAATACCAGCACCCATACAGCCTCTTAACCCTTTGTGTAGTACTCTGCCCACATACAGCCAGCAAAAAGCAGACACTACAGATCTACAGTTTAAAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23013
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000046802 | Essential Splice Site | 104 | 427 | 2 | 12 |
ENSDART00000114668 | Essential Splice Site | 104 | 466 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 17 (position 12028669)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 11989347 |
GRCz10 | 17 | 12011191 |
GRCz11 | 17 | 12143413 |
GRCz11 | 17 | 12165257 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTGCCATGTGCAAACAGGCTGTCATTGTGCTCAGCTGTGTTGGGCCTG[T/A]AAGTACCATCCTCAATCGCTTATTATGTGTGTGGGGGCAGCCTTTTTTAT
Long Flanking Sequence:
ACGAATATGTGGAGAAATGCAAAATCCACACTGGAATGCCAACTGACCCAGCTGGGGCTCGAACCAGCGAACTTCTTGCTGTGTGGCAACACCACTACCCACTGCGCCACCGCACCGCCTCATTAAAAATGAAAGAAGTTAATAAAAATATTAGATTTAAAAATCTCATACCCATCCTCTAAAACTATTTAGGATTCTTTACTGTACAAGTAATATCCTTTACCTTTGTGTATTAAACTGAATTATTGATGATATCAATTTTTTTTCATGACCATTGGGACTGTCTTCCCCTAATTTTCTTTAAATACAACCCAGTATTGTTTGCATAATTACACTGAATGTGCAGTATATTGTATCAGTGTGATGTCTGAAATGTTTGTCCTCAGGTAAACCGGAGCTGAAGACTGAGGTGGATATTATAGTTGCAGATGTCAGTGATCAGGAGTCACTGGCTGCCATGTGCAAACAGGCTGTCATTGTGCTCAGCTGTGTTGGGCCTG[T/A]AAGTACCATCCTCAATCGCTTATTATGTGTGTGGGGGCAGCCTTTTTTATATAGTGGATTTGTCATAAAGCATAAGGTAATGATACGTTTATTTATTGAAATATAGCACCATGATGTTTGCAAAGCTTGCTACATCAGGCTGATAAGTGTGTGTGATTATGTGTGGTGGTGCAATTCTGCTCTCCTAAAACAAGATAATGGAGTTTGTACTTTGAGCCTTGCATGAGGTTGTCTTTTTAGATCATCTTCAATTTTGGAAAAATCAATACATTTTTATATTGTATATTGTTTATTCAGTTTTTTTTTAGATAATGCTGTACATTTCGTGTAATATGTACACTATTATTCAGAAGTTTGGTGTCAGTAAGTCTTGCCAAAGCTGCACTTCTTTAATGAAACACACCGAAAAAATTGAAATATATTTAAAAACATGTTTATAATTTAGAATTTATTTATCTCAGCTATAATTTTTTGACATGTAACTTAATTCCTTTTGTTGT
Associated Phenotype:
Not determined