ZMP
LOC100334077
Ensembl ID:
Human Orthologue:
DHRS12
Human Description:
dehydrogenase/reductase (SDR family) member 12 [Source:HGNC Symbol;Acc:25832]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19874 | Nonsense | Available for shipment | Available now |
sa39932 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa19874
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113262 | Nonsense | 9 | 325 | 1 | 10 |
Genomic Location (Zv9):
Chromosome 2 (position 47746016)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 47769124 |
GRCz11 | 2 | 47623288 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGAAGAAACAACGGTGCAACAAATGTCTCTCTACAGGAATATACTTTG[G/A]TTTATCAAGGGAATGAGGGAGTATACAAGGTAAAACTTGTCTTTGTTGTA
Long Flanking Sequence:
AATTAATCAATCAATCAATCAATCAATCAATTATTCAATCAATCAATCAATCAATCATTCTATCTATCTATCTGTCTGCCAATCCGTATGTCCATCCGTCCGTCCGTCCGTCCGTCTGTTCGTCCGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATAAAAAATAACATGTAGGCCTTTTATTAGTTGTCCAGGTTGTCATGAATACACACAAAACTTACCACCGATCTAGGACTATCAATAACATGTTGTCAAAATTCTAAATTAGAAGACTTTTTTCAGAGCATTACATATAAAATGCCTAAAACATGGAACAGCAGTTTCATTTATTTGCACCACCCAGTTGGCGTGTAATTGATTATCTTTGGTCTGCCACTAGAGAGCGTTCTGCAGGGCTTGAGTCACATGCGCCTGTCAGCTGTCACATCACTTCAGTCCAGCTCAGAAGAAACAACGGTGCAACAAATGTCTCTCTACAGGAATATACTTTG[G/A]TTTATCAAGGGAATGAGGGAGTATACAAGGTAAAACTTGTCTTTGTTGTATTTGTTTCTTGAGTTTTTTTGCATTGGTGCTGTCTTTGGGATTCTTTGTTACTTTCATTTTGTTAGAGTCTGAGAAGTTTGTTGCACTTTTGTATTGTGGGGGGGCAGTGTGTTTTATATGTTTATACAAGTGGAATGTGATGGTTTTCATTGCTGTAATAATTACTTCAATTCACACACGCGTATTCTGGCTTGAGCATATTACAGATCACATGTTCTAATAATGCAAGACAAATGTGGTGTTTCTTGCACAAATGTTGTTTTTGTAGTTCCCCAAGTCATCTCCTCTGACATTTATTCATCTAAGCCCTCAGTTTAAAGTCAGTCATCATTGCATCACAATGGGCTCTATTGAGGCCCCTGTGCTTTCTCAAATGCCCTGTCATCCCACACAGAAGCTTCTTTGGCCCCTGATCAGGGCTCTCGTCTTGCCAACACTGTCTCAGATCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39932
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113262 | Essential Splice Site | 64 | 325 | 3 | 10 |
Genomic Location (Zv9):
Chromosome 2 (position 47748703)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 47771811 |
GRCz11 | 2 | 47625975 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACACTGACCTCTTCTCAACAAGCTCCTTGAATTTTTTTCTTATTTTCCA[A/G]GGCGGCACTGTCCATATTGTCTGCCGAAACAAAGAGAAGGCTGAAAGAGC
Long Flanking Sequence:
AGCAAAACAAAGCAAAATGTTGAACTTCTTTAGTTATTAGAATTTTAAAAAGAATTTACATTAAAATATAAAACCTTTGTTGCAAAGGTTTTTACCAATATAATAGCTTTTGCGTAATAAAAATATAAATTGCTGACCTGGATTTTAGCATTTTACCCCAGTTGGAGAGCAGAATGATCTTCAGTGCACTATTAAGTAATCTTTGCATAGTTTCTCATTGCCAAACTGAGCTATTTGTATTCCTTTGTGTTTTTCTGTAATTTAGAATGACAATAACAATAACTACATTTTTTTCTTATTCTAGATATAATGTGAATGGTTTTGCTCATGTAAAATATATTTTTATAATTGTTGCATTTATTTGGTGCATTATCATTTGTTCTGATGTATTTCATCATGTTGCAATGACTTGCTAGTAATCTAACTGATAGGTAAACACTAAAATTGTAAAACACTGACCTCTTCTCAACAAGCTCCTTGAATTTTTTTCTTATTTTCCA[A/G]GGCGGCACTGTCCATATTGTCTGCCGAAACAAAGAGAAGGCTGAAAGAGCCAGAGAAGAAATAGTCTCAGCAAGTGGAAATACTGTGAGTATTTTTAATTACTGCTGACGAAGCTTCAGTGTTTGAATGACAAGAAATTATTCATTAATTTTCCTTCGGCTTAGTCCCTTATTAATCAGGGGTCACCACAGCAGAATGAACCGCCTGAATGACAAGAAATAAAAGAAAATCATTAGTGTTTAAAGGCTATTTTATAAGATGGAATGTAAGCCTCAGATTCCTCTGCTCATATTTCTGATGTACTGCAGATGGTTTTTGTCCATGTGTTGGATCTCTCCGAGTCCAGAAAGGTGTGGGAGTTCGCAGAGGCCTTTAAGAAGGAGCACACATCTCTCAATGTTTTGGTATGAGTGTCAAGAGAGCTGCTTTTGAAGATTCCCATCATACCTCAGTATATTGAAAATATATATATAAAGGTTATAGGTGCAGGACAGATGAAG
Associated Phenotype:
Not determined