ZMP
LOC100333269
Ensembl ID:
Human Orthologue:
ALDH1L2
Human Description:
aldehyde dehydrogenase 1 family, member L2 [Source:HGNC Symbol;Acc:26777]
Mouse Orthologue:
Aldh1l2
Mouse Description:
aldehyde dehydrogenase 1 family, member L2 Gene [Source:MGI Symbol;Acc:MGI:2444680]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa44582 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa18774 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa31378 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa44582
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000102893 | Essential Splice Site | 232 | 923 | 5 | 22 |
Genomic Location (Zv9):
Chromosome 4 (position 8107448)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 4 | 9035798 |
GRCz11 | 4 | 9036714 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGAAGAAGGAGCCAGTTATGAGGGAATCCAAAAGAAATCCAATGCTAAG[G/A]TGGGATAGGAGTAAATAGCTTGAAATGTAATTAAAGTAAGTGAACGTCAT
Long Flanking Sequence:
TTTAAAAAACTCTCTTTCCTTCTCTAAATTTTCTAAAATAATTCTAAATTAACAAAACTAACACTGAAAGTAACCGACATAAGTGTTTACTTGTCAGGATATGGTCTTCATTGTAGATTTGGCCTGTTTTTAAGTGATGTTTGTGTTTGCAGGACACTAATCGAGGGCGATAAGAAGGCTGGATTCAGTGTATTCTGGGCTGATGATGGTTTGGATACTGGACCCATCCTGCTGCAGAAAGAGTGTCAAGTAGAGCCCAACGACACAGTGGACACTCTTTATAACCGCTTCCTGTTTCCAGAGGGCATCAAGGCCATGGTGAATATACATAATTTTTTTTTTTTAAAACAACACTTTTATGCTAAATAAAGTTGACCTACAGATTTGGTTTGAAACAGGTTGAAGCTGTACAGCTCATTGCAAACGGAAAAGCTCCCAAAATCCCTCAGTCTGAAGAAGGAGCCAGTTATGAGGGAATCCAAAAGAAATCCAATGCTAAG[G/A]TGGGATAGGAGTAAATAGCTTGAAATGTAATTAAAGTAAGTGAACGTCATCTTTATCTGTCAGTCTCTGGTTATTTTTCCAGGTGAATATGGCTCAGCCGGCAGAGGCTATTCATAACTGGATCCGTGGACATGATAAAGTTCCTGGTGCCTGGGTTGTGATGGATGGAAAGGTATTATTATAAGGGGACCCTTTGTTCATAACAACAACAACAACAAATCAAATATTTTGAATTGAATATTATTATTGTTTTATTATTTGTTTATGATCTATGAAATCATAAATGATTTTATTCATCTGAGATATTATAAATAAAACAACAACAACAAAAAACCCATCAAACTAAAGTAACGTTTGTCACTTGAAATAAAATAAATGACACATATATGATTTAAATGTACATTATATATTTTTAATTGTATAAATTAAATTATACATTTAAACTAAATGTATACCAAAAGTTATTAAGATAAGAATCAAAAATCATTTGTTTCATAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18774
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000102893 | Essential Splice Site | 262 | 923 | 6 | 22 |
Genomic Location (Zv9):
Chromosome 4 (position 8107621)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 4 | 9035971 |
GRCz11 | 4 | 9036887 |
KASP Assay ID:
2259-4511.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCGTGGACATGATAAAGTTCCTGGTGCCTGGGTTGTGATGGATGGAAAG[G/A]TATTATTATAAGGGGACCCTTTGTTCATAACAACAACAACAACAAATCAA
Long Flanking Sequence:
GAAGGCTGGATTCAGTGTATTCTGGGCTGATGATGGTTTGGATACTGGACCCATCCTGCTGCAGAAAGAGTGTCAAGTAGAGCCCAACGACACAGTGGACACTCTTTATAACCGCTTCCTGTTTCCAGAGGGCATCAAGGCCATGGTGAATATACATAATTTTTTTTTTTTAAAACAACACTTTTATGCTAAATAAAGTTGACCTACAGATTTGGTTTGAAACAGGTTGAAGCTGTACAGCTCATTGCAAACGGAAAAGCTCCCAAAATCCCTCAGTCTGAAGAAGGAGCCAGTTATGAGGGAATCCAAAAGAAATCCAATGCTAAGGTGGGATAGGAGTAAATAGCTTGAAATGTAATTAAAGTAAGTGAACGTCATCTTTATCTGTCAGTCTCTGGTTATTTTTCCAGGTGAATATGGCTCAGCCGGCAGAGGCTATTCATAACTGGATCCGTGGACATGATAAAGTTCCTGGTGCCTGGGTTGTGATGGATGGAAAG[G/A]TATTATTATAAGGGGACCCTTTGTTCATAACAACAACAACAACAAATCAAATATTTTGAATTGAATATTATTATTGTTTTATTATTTGTTTATGATCTATGAAATCATAAATGATTTTATTCATCTGAGATATTATAAATAAAACAACAACAACAAAAAACCCATCAAACTAAAGTAACGTTTGTCACTTGAAATAAAATAAATGACACATATATGATTTAAATGTACATTATATATTTTTAATTGTATAAATTAAATTATACATTTAAACTAAATGTATACCAAAAGTTATTAAGATAAGAATCAAAAATCATTTGTTTCATAAAATAAGCAATATAAACATGAGTTAAAAATCAAATAATAAAGAAATTTTAATATTATTTTAAAATTTAAAAAAATAGAAAAAGTAGAATATAATTAGAATAAATATAAACAAAATAAATATTTTTTTTAGAAATTTAGAATTAAAAAAAAAATTATACAATTCTAAAAATGACAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31378
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000102893 | Essential Splice Site | 682 | 923 | 16 | 22 |
Genomic Location (Zv9):
Chromosome 4 (position 8115786)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 4 | 9044136 |
GRCz11 | 4 | 9045052 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCTTGGTTTTACAGGCTCAACACCCATTGGCAAACAGATCATGAAGAGG[T/C]GAGGTTAATGTCAGTAAATTATTTTGTTTTTTGTTACTGTTATTGATATT
Long Flanking Sequence:
AAGTTTGCCGAGTTGACAATCAAAGCTGGCATTCCTAAAGGAGTCATTAACATTGTACCAGGATCAGGTGAGTATTCAATCTTAGTGGCTGATGTGACTGATAAACAATCTGATATTGACCGTATTCTGCGATGTAGAAGTGCACTCATTTTTTGCTATTGTTATAGAACTAAGAATAATATACAGCTCAAACGAATTGCTCTACAAAGATGTGTTCTCATAACTATACACAAAAAGTAGAACAGCACAATAAGAAAATATCAGTTTGCAACTTTAGGCAGCATAACAAGCTGTGTTTAACGTCTAGAAAACAATGGAAGTGAATGAAACTGGGAGTCTCGAGATTCAAATTCAATAAGAATAAGGTCAATAAGATCACAACTTTCCATTCCTTTCTCTTTTCAGGTGGTCTGGTCGGGCAGAGGATGTCTGAGCATCCTGATATCCGTAAGCTTGGTTTTACAGGCTCAACACCCATTGGCAAACAGATCATGAAGAGG[T/C]GAGGTTAATGTCAGTAAATTATTTTGTTTTTTGTTACTGTTATTGATATTGGCATGTAGGGGCCTGATGTCCTACTCCTCTAGTATTCTTAAAAGAGATAGTTCATCCAACATTTACACACTATTTACTCGCCTTTAAGTGGTTCCAAATTATTTGAGTTTCATTCTTCTGGCAAACACAAAAGAAGATATTTTGAAGAAAGCTAAAAACCTAAAACCATTGACTTTCATAGTAGGAAAAACAAATACTATGGAAGTCAATACAAGGTTCTGACATTTTTCAAAATATCTTCTTTTGTGTTCAACAGAAGAAAGAAACTCAAAGTTTGAAACAAGGGTGAGTAAATGATGGTAATTTTCATTTTGGGGTGAACTGTCCCTTTAACCAAAAGACTGCTGCAATATGTAAATCTAACACGTTGCACTGTTTATGTTCCAGCTGTGCGGTCAGTAACCTGAAGAAAGTTTCACTGGAGTTGGGCGGTAAATCTCCTCTCATCA
Associated Phenotype:
Not determined