ZMP
bhlhe40
Ensembl ID:
ZFIN ID:
Description:
class E basic helix-loop-helix protein 40 [Source:RefSeq peptide;Acc:NP_997844]
Human Orthologue:
BHLHE40
Human Description:
basic helix-loop-helix family, member e40 [Source:HGNC Symbol;Acc:1046]
Mouse Orthologue:
Bhlhe40
Mouse Description:
basic helix-loop-helix family, member e40 Gene [Source:MGI Symbol;Acc:MGI:1097714]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16419 | Nonsense | Available for shipment | Available now |
sa21951 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16419
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000026017 | Nonsense | 56 | 403 | 3 | 5 |
ENSDART00000128382 | Nonsense | 56 | 403 | 3 | 6 |
Genomic Location (Zv9):
Chromosome 11 (position 36603369)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 35500597 |
GRCz11 | 11 | 35762580 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATAGTTTTATCTGCTGACCCCYAGGAWACGTACAAACTGCCTCATCGAT[T/A]GATCGAGAAGAAAAGAAGAGACCGAATAAACGAGTGCATCGCGCAGTTGA
Long Flanking Sequence:
TCTACTTTTTGTTATTATTATTTTTGATTTACCCTATTCTTACACCAGTAAGACACTAGGGTGAAATGGAGAGGATTACCAGTGCTCAGCCTCCTCCGTGTATGTCCAAACACCCCTCGCTGGATATCTCTGACATGCAAGGGTAAGTCAGTCTCCTCAAGCTGTTTTGTGTGTGTGTTTGTGTGTGTCTGTGAACGCGACGCAGTTCTCTTATTGGCTCTATTTTACTTTATTTTATAGAATGGACTTTCCCATGTATGTGTATAAACCCAGACGAGGAATGAAGCGCAGTGAGGACAGTAAGGTACGAATGCGTAATTACGCACAAATATGAATGCGCACGCTTTTACTTATGACCTTTCTCTTATTTAAATGTATTTTGATGTTCTAAACAAGTGCGCAATTTGCCTTTTATTATTTTTTGCTTGTTTTTATGCATCGAAGTTAATATATAGTTTTATCTGCTGACCCCCAGGATACGTACAAACTGCCTCATCGAT[T/A]GATCGAGAAGAAAAGAAGAGACCGAATAAACGAGTGCATCGCGCAGTTGAAGGATTTGCTGCCCGAACACCTTAAACTCACGGTAAGTAATATGGGAGTGGATGGGCTCACCTCCTCACTATGTTGTAGTGTAAAGCGCCACCTGCTTGTTGATCATGAATAAATCATGTTTGTCCTGCTTTTGGATTAGTCACGCTCCTACAATGTGCTTGATTTATATTTTATTATATAAAACCTTCACCTTTGGCATTCTGTAGCTGGCATGTTAAACAAGGCGTGTTAGATTGTCATTCAGAGAATTTGAATATTTCTAACACGCACATGTGCATGCACTGGTGAGCAGAGAGGAGTGTCTTCATTCCTGCTCAGTGCAGGTTTGTCCTCTCTGAGCTGCTGCGGAGAGCGTTACATAAGAAAGATCAACATGCTTATCTGGGTTCTTCCTGTTTTAGACTCTGGGACACTTGGAGAAGGCTGTTGTCTTGGAACTCACACTCAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21951
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 |
---|---|---|---|---|---|
ENSDART00000026017 | Essential Splice Site | 124 | 403 | 4 | 5 |
ENSDART00000128382 | Essential Splice Site | 124 | 403 | 4 | 6 |
Genomic Location (Zv9):
Chromosome 11 (position 36602792)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 35500020 |
GRCz11 | 11 | 35762003 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAACAGCAACAACAGAAGATCATTTCCTTGCAGAATGGATTGCAAATCG[G/A]TGAGTTTTTGATAATACCAAAAGGTCGGCACATCAAATGTGTGACCATGT
Long Flanking Sequence:
CTCACGGTAAGTAATATGGGAGTGGATGGGCTCACCTCCTCACTATGTTGTAGTGTAAAGCGCCACCTGCTTGTTGATCATGAATAAATCATGTTTGTCCTGCTTTTGGATTAGTCACGCTCCTACAATGTGCTTGATTTATATTTTATTATATAAAACCTTCACCTTTGGCATTCTGTAGCTGGCATGTTAAACAAGGCGTGTTAGATTGTCATTCAGAGAATTTGAATATTTCTAACACGCACATGTGCATGCACTGGTGAGCAGAGAGGAGTGTCTTCATTCCTGCTCAGTGCAGGTTTGTCCTCTCTGAGCTGCTGCGGAGAGCGTTACATAAGAAAGATCAACATGCTTATCTGGGTTCTTCCTGTTTTAGACTCTGGGACACTTGGAGAAGGCTGTTGTCTTGGAACTCACACTCAAGCATGTGAAGGCTCTTAACAACCTGCTGGAACAGCAACAACAGAAGATCATTTCCTTGCAGAATGGATTGCAAATCG[G/A]TGAGTTTTTGATAATACCAAAAGGTCGGCACATCAAATGTGTGACCATGTTGCAGGAAGTGGCCCCGCTGAACTTTTCACCTCCCCTCCCCTTTCAGTTGTTTTTGAGTGCATTACAAAATAAAGAAATTGAGACATGCTTGCGCAACACAAAGAATGATCTGGCCTCAGGGAGTGTTGTGAAGGAAAACTTGGACTTGTTCTAACCTCATTGTTTTGTTGTTTGCAGGCGAACAGGGAAATGGGCCCTCAGAAAACAGTGAAGAGATGTTTCGTTCCGGGTTCCACTTGTGCGCCAAGGAGGTTCTTCAGTTCCTGGCCAATCAAGAGACCATGCGTGACCTGACCACTGCTCACATAATCGAGCACCTTCAAAAAGTGGCATCTGAGCTCATTCAGAGCCCACCGAGTCCTCGCCTGGACGAGCCCGCTCCCAAAGCTCAAGAGAGTCGGGAGAAACCATCAGGCCTACAGCCAAAGGCTGCAGAAGGTCATGCTAAA
Associated Phenotype:
Not determined