ZMP
hif1ab
Ensembl ID:
ZFIN ID:
Description:
hypoxia-inducible factor 1-alpha [Source:RefSeq peptide;Acc:NP_956527]
Human Orthologue:
HIF1A
Human Description:
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) [Source:HGNC
Mouse Orthologue:
Hif1a
Mouse Description:
hypoxia inducible factor 1, alpha subunit Gene [Source:MGI Symbol;Acc:MGI:106918]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16125 | Nonsense | Available for shipment | Available now |
sa23673 | Essential Splice Site | Available for shipment | Available now |
sa29335 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa16125
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000018500 | Nonsense | 137 | 777 | 4 | 15 |
ENSDART00000047580 | Nonsense | 137 | 532 | 4 | 15 |
Genomic Location (Zv9):
Chromosome 20 (position 20410476)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 20438643 |
GRCz11 | 20 | 20338316 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTTTCTCTCTCTTAGTTTGATCTGACCGGKCACAGCATCTTTGAATTTT[C/A]ACACCCATGTGACCATGAAGAGTTGAGAGAGATGCTCGTCCACAGAACAG
Long Flanking Sequence:
GGCCACCAATATTACATGCATTTCTAATATAAGTATTAAAATACACTAAATTGTTTAATAAAATATGTTCTTGCAATATTTTATTTATAGTAATACAAAACAATTAATAGGAATGTACCAAGTTAGCAACATGTGATTGTATTTTTTCTTATACAAACCACTTAGTATCAGGTGTAAACATGACCTTACATTTATTATATTGCTCAGGGATGTTATTCGATTTTGCAGATGAAAAAGAGGAGAAGGAGGAGAATGAGCTGGAAAGTCAGCTGAATGGCTTTTATCTGAAGGCCCTTGAGGGTTTCCTTATGGTCCTGTCTGAGGATGGAGACATGGTTTATCTCTCTGAGAATGTCAGCAAGAGCATGGGCCTCACACAGGTACCTCGACGTCTGCATTTTCTTCTAAGCATTTCGATTAAAAGCTTATGGTGTAGCTAAATATCCTTTCCTTTTCTCTCTCTTAGTTTGATCTGACCGGTCACAGCATCTTTGAATTTT[C/A]ACACCCATGTGACCATGAAGAGTTGAGAGAGATGCTCGTCCACAGAACAGGTGAGCCACACACGACACATTCATACCACTGATAAATCAGTCATTAATAACAAATGCATTAACGTTTGTCTTCATCCTTATCATCCATGTTTAGGATCCAAAAAGACCAAGGAACAAAACACAGAGCGTAGCTTCTTCCTGCGGATGAAGTGCACACTCACTAGCAGAGGACGCACCGTCAATATCAAGTCTGCGACGTGGAAGGTGACATTGTCTTTTCAAACTGTTGCTAATTGTAGTCATAGCTTATATATAGCCTTCCACATATCTATACCTTTTCCTGGTGTATTGTTCAAGAAGAATACAATTCGTAAAGCAGATTTTAGTTAAGGAAGTAGGAAAGAAAATAAGCTTGAGTCATTTTTTGTGAAGGATATTTATTTTGTAGTTTTTATTATGTACAGGGTTCATAAGGGTGCTGGAAATTCTTGAAAATGCGTGAAGTTTAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23673
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 |
---|---|---|---|---|---|
ENSDART00000018500 | Essential Splice Site | 504 | 777 | 10 | 15 |
ENSDART00000047580 | None | None | 532 | None | 15 |
Genomic Location (Zv9):
Chromosome 20 (position 20404069)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 20432236 |
GRCz11 | 20 | 20331909 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCAGACCCCACAAACACACCCTCCACATCTGGACTCGGCTCTTCGGGGG[T/C]AAACACTTATTAAACGCTTGCTATTCTTGGTCATTTAACAACAATTGCTC
Long Flanking Sequence:
TATAATGGGTGTGACAGACAATGTAGATAACCAAAACATGCAGTGTTGGTGGTCCTCCAGGCACATAGTTGAGAAACACTGCTTTAGAGGATTAAATGCAATCCCCTGGCAGCTTTTTATCTTATGAAGACTAACAACTCTTGTCATTCACTAATCATCTGAGATTACAGGAAATGTGCTTTCATAATTTTACTGAAGTAAATCTAATATTAAATACACACAGTTCCTTGGTGGTCTACCAATAATAATTACCGGTATCCATTTCCCTCCAGATTCTGACATACAGCTGCTGAAGGAGGTGCCCCTCTACAATGATGTCATGCTGCCTTCCAGCAGTGAGAAGCTGCCACTCAGCCTATCTCCTCTCACACCCAGCGACTCCATCCCAGCTCTGACCAAACTAGAGACTGGAGGAGAGGACTTCCCTTTCAGCTCTGCCTCTGATCGTGTGCCAGACCCCACAAACACACCCTCCACATCTGGACTCGGCTCTTCGGGGG[T/C]AAACACTTATTAAACGCTTGCTATTCTTGGTCATTTAACAACAATTGCTCCCTTGTAATGGTTAATGAGATACTGTCACTGACTTTAGGTTGTTTTTTTTTGTCAATCTTAGCCCAACAGCCCCATGGATTACGGTTTCCCAGTGGAACCAGACATCAGTTCTGAATTTAAACTCGACCTGGTTGAGAAACTGTTTGCTATTGATACCGAAGCAAAGACACCTTTTTCCACCCAGGTAACTTTTTATTTAAGATTTTAACTACATATTGTTTGTCTCACTCTCTCCCAAAATCAAATTCTAATTCAAATGAGCTTTATTGGCATGACTTGTCAAGTATTGCTTATATATTGCAAATATGAATATATATACACATGTACATAAAACACAATTACAGATTTGATAAGTACATATGCAAATAAAAAAGACTAAGTTTTTTATTTTATATTATTACAAAGAAAACGAAAGAAAAATAAATTATAAAAAAAACAATATTATAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29335
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000018500 | Nonsense | 775 | 777 | 15 | 15 |
ENSDART00000047580 | None | None | 532 | 15 | 15 |
Genomic Location (Zv9):
Chromosome 20 (position 20400266)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 20428433 |
GRCz11 | 20 | 20328106 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGACCGCCACCATCTGCTCCAGGGAGAGGAGCTGCTGCGTGCTCTGGAC[C/T]AAGTCAACTGAGCTCTGCTGCTTTTAGCAACTGCGGACACTCTTCCCCCC
Long Flanking Sequence:
TCTTAATCAAATTATGTGCCAGAACATTTAAAACAGGATCATGAAGGGAACATTAAAAAAGCAACTCATGTAAACACCTTAATCATATTATTTTCTTATTCAGATTAAGGCAAATAATTCAATTACTGATGTCCATATAAAAGCTATTATAAAAACCCAACAAGAAATCCAATGAAAAATGTATTCATTTTTTAAAAAACAACTTTATTCAAGATGTACTTAAATAAAACTGTAAAAAAAATAATAATAATAATTATTTACAGCAGTTTTATTTATAGCTTCAGAGTCATTTTTGTAGCTCTAACTAAATCTGCATGTTTCCAGTTGTGAGTAAATGAGTTTTTTCTCTCTCTGCAGATGTGGCCAGTCGTCTGTTGAGCAGTTCTCTAGAGGGCAGCGGCGGCCTCCCTCAGCTCACACGCTACGACTGCGAAGTCAACGCTCCCGTGCAGGACCGCCACCATCTGCTCCAGGGAGAGGAGCTGCTGCGTGCTCTGGAC[C/T]AAGTCAACTGAGCTCTGCTGCTTTTAGCAACTGCGGACACTCTTCCCCCCTTCTCCCGAACCCCTGAAATCTGCCTCCACTTGTCTCCTTTTATCCCAAGCCCTAATATTCTCTAAAAACCCCAGTGTTTTAAAACGAAATGTACTAGACCTGCACCTTCCATTGATGTGAACAGGAGCCCAGAGGGAGTCAGTCCATCCCATCCCCAGTGTGTGCAGGGCCTGCAGACACAGGAACGTACCGATACTCAACAGTGGCATCAAGAGTTAAGAGCCTTAATGTGAAATGCACAACTCGCCCTGACACACAGATGCAGATGCGTACAATCCACCCCCACCACCCAAAAACTCCCTCTGGATCTCCGACTTTGACCTAAAAAGCCTCCCGCTGTGTTTTATCGCCCCCACTCCCAAAGCGTGTGTATTGTAGCTACAGTCGCACAATAATCTATTTTCTTAAGACAGAATACCAGCAGTCCATGCAATATATACGAAACCATT
Associated Phenotype:
Not determined