ZMP
LOC564761
Ensembl ID:
Human Orthologues:
ITIH1, ITIH3
Human Descriptions:
inter-alpha (globulin) inhibitor H1 [Source:HGNC Symbol;Acc:6166]
inter-alpha (globulin) inhibitor H3 [Source:HGNC Symbol;Acc:6168]
inter-alpha (globulin) inhibitor H3 [Source:HGNC Symbol;Acc:6168]
Mouse Orthologues:
Itih1, Itih3
Mouse Descriptions:
inter-alpha trypsin inhibitor, heavy chain 1 Gene [Source:MGI Symbol;Acc:MGI:96618]
inter-alpha trypsin inhibitor, heavy chain 3 Gene [Source:MGI Symbol;Acc:MGI:96620]
inter-alpha trypsin inhibitor, heavy chain 3 Gene [Source:MGI Symbol;Acc:MGI:96620]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12713 | Essential Splice Site | Available for shipment | Available now |
sa41764 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa31810 | Nonsense | Available for shipment | Available now |
sa21835 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12713
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 |
---|---|---|---|---|---|
ENSDART00000077344 | Essential Splice Site | 123 | 905 | 3 | 21 |
Genomic Location (Zv9):
Chromosome 11 (position 3706364)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 3624868 |
GRCz11 | 11 | 3644255 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAGAAGTATGAGAGCGCTGTRATATCCGGTCAAACTGCTGGCCTGGTTAA[G/A]TAAGTACAGATCAACGCTGAATTTCTGGCATGCTAACTAAGTACACGTAC
Long Flanking Sequence:
TCTTAATGACATGCACAGATGAATTGTTCACCACAAAACCAACAATGTGAGCTAACAAAATCAATACGGTTAGTTCTCCGTTCATCTGTACTTTAAATATATAGTTATATATACACTGTAAATATAAATATACAGTGAATTCTCGTACTATGTTTCTCTCAGATTGAACTGCAAAGCATGCGAGTGGACTGCAAGGTTGCGTCTCGTTTTGCTCACACCGTCATGACCACCAGAGCACTGAACACAGCCAACGCATCGCAGGAAGTCTTCTTTGAGGTGGACTTACCCAAAACGGCCTTCATAACCAATTTTAGCATGTTAGTCCTTCCTTTGATTAAACAAGCTATTAATATACTGCATCTGCAACTGTAAGACACTCAGTGTTTGTTTTTCAGAGAGATCGAGAACAGGATATATGTAAGTGAGGTGAAGGAAAAAGAGCAGGCCAGGCAGAAGTATGAGAGCGCTGTGATATCCGGTCAAACTGCTGGCCTGGTTAA[G/A]TAAGTACAGATCAACGCTGAATTTCTGGCATGCTAACTAAGTACACGTACAGTTGACGTCAGAATTGTTAGCCTTTTTGAATTATAAGCCCCCTAGTATTTTGTTTTCCCCAATTTCTCTTACTAGTATTCAGCTTAAAGTGCCATTTAAAGGCTTAATTAGGAAAGTTAGGGCATTTAGGCAAGTCATTAGCCCCTTTCACACAGTGATACCGGTAAATATATGGAAAATGTCCGGAACGACTTTACCAGTAGAATCAAAAAAGCGCTGTTCACACAGGCGAGGACGTTATGGAATTTTTCCGGAAGAGAGCATCCACACATCCATTCCAAAATACCGGTAAATTCTGACATCATTCACCAGAAATGAGCTCTAAACGGCTGCGCTTGTGTTTGTAAACATTTGACTACATCACAAACTCTGTGGATGGATCAGTGTTGTGAACTACTTCGATGAAAACATATAGGAGAAACACTTTCGCATGTCGAGATGTACATGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41764
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077344 | Nonsense | 720 | 905 | 18 | 21 |
Genomic Location (Zv9):
Chromosome 11 (position 3694743)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 3613247 |
GRCz11 | 11 | 3632634 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGATCATCGGAGATAAGAAGATCATCCCAGGGAGCAAGTTGCACACTTA[T/A]TTTGGCCGCTTTGGGATTGTTGATGAGAAATTGGGTATCAGACTGATGGT
Long Flanking Sequence:
TAGACTTTTCTCTCTGCTACCCTCAGGCAGACGGTTCCGCAGCATCCGGTCACGCACCAGCCGACTGAAGGAAAACTTCTTCCCTCAGACTATCAGGCTGATGAACACTTAGCACACCCCACACAGACTCTTCCATACCCCTCACTGCACACCATCAATATGTAGCATGCACTGCAACCAATCCATACTTGAAACAACACTGCCTAAAACTATGTGGACACCTATTCATTGTACATATCGTCATTTTTTTTGCACTGTCTGTATTTTGCACTGTCGTTGTACTAAATCTGTATTTAGTACTGTCTGGAGCCGGCACTTAAGTTTTTCACTCATCATAGCACACGTGCTGCTGATGATGTGACAATAAAAGTGATTTGATTTGACCTCTATTATATTTTTCTGTTATTTATGTTTGTGAAAAATACATATGCAGGCATCATGGTGAATGGCCAGATCATCGGAGATAAGAAGATCATCCCAGGGAGCAAGTTGCACACTTA[T/A]TTTGGCCGCTTTGGGATTGTTGATGAGAAATTGGGTATCAGACTGATGGTGAGCACACAGGAGATCTGGGTGTCCGAAGGAGGAAAACAGACTAAACTCTCCTGGACGAACAAGAGGACAATAAAAGGACTCGAGTATGTGCCAGTTATATTAGACAGTACTTAAATAGATAGCTTTGATATAAAACATATAAGTTTGATACAAAATAATAGCAGGATTGCCATTTTTGAGTGAATTATTCTTCTAAAATAAGCATAATTTGAGCTAAATCCTTATTTTTTTTCCTAGTATGGACCTGCAGGTGATCAAAGATCAAAGTTTAACAGTGACCCTAAAGAACTCAGTCAAGTTTCTTATTATCCTGCACAAAATATGGCGGAAACATCCATATCATCAAGACTACCTTGGGTTCTACACCTTGGACAGTCACCAACTTTCGCAAGATGTCCATGGCCTTCTTGGTATATCTTATTGATTGTAGTTTAATTGCTAATATAGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31810
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077344 | Nonsense | 734 | 905 | 18 | 21 |
Genomic Location (Zv9):
Chromosome 11 (position 3694703)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 3613207 |
GRCz11 | 11 | 3632594 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCACACTTATTTTGGCCGCTTTGGGATTGTTGATGAGAAATTGGGTATC[A/T]GACTGATGGTGAGCACACAGGAGATCTGGGTGTCCGAAGGAGGAAAACAG
Long Flanking Sequence:
AGCATCCGGTCACGCACCAGCCGACTGAAGGAAAACTTCTTCCCTCAGACTATCAGGCTGATGAACACTTAGCACACCCCACACAGACTCTTCCATACCCCTCACTGCACACCATCAATATGTAGCATGCACTGCAACCAATCCATACTTGAAACAACACTGCCTAAAACTATGTGGACACCTATTCATTGTACATATCGTCATTTTTTTTGCACTGTCTGTATTTTGCACTGTCGTTGTACTAAATCTGTATTTAGTACTGTCTGGAGCCGGCACTTAAGTTTTTCACTCATCATAGCACACGTGCTGCTGATGATGTGACAATAAAAGTGATTTGATTTGACCTCTATTATATTTTTCTGTTATTTATGTTTGTGAAAAATACATATGCAGGCATCATGGTGAATGGCCAGATCATCGGAGATAAGAAGATCATCCCAGGGAGCAAGTTGCACACTTATTTTGGCCGCTTTGGGATTGTTGATGAGAAATTGGGTATC[A/T]GACTGATGGTGAGCACACAGGAGATCTGGGTGTCCGAAGGAGGAAAACAGACTAAACTCTCCTGGACGAACAAGAGGACAATAAAAGGACTCGAGTATGTGCCAGTTATATTAGACAGTACTTAAATAGATAGCTTTGATATAAAACATATAAGTTTGATACAAAATAATAGCAGGATTGCCATTTTTGAGTGAATTATTCTTCTAAAATAAGCATAATTTGAGCTAAATCCTTATTTTTTTTCCTAGTATGGACCTGCAGGTGATCAAAGATCAAAGTTTAACAGTGACCCTAAAGAACTCAGTCAAGTTTCTTATTATCCTGCACAAAATATGGCGGAAACATCCATATCATCAAGACTACCTTGGGTTCTACACCTTGGACAGTCACCAACTTTCGCAAGATGTCCATGGCCTTCTTGGTATATCTTATTGATTGTAGTTTAATTGCTAATATAGGCACATTTCCATGTTTTGTGATGGAACCAAGCCTTTTTTTTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21835
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077344 | Essential Splice Site | 823 | 905 | 20 | 21 |
Genomic Location (Zv9):
Chromosome 11 (position 3693269)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 3611773 |
GRCz11 | 11 | 3631160 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCTAATCCTGAAGTTACCAACAGTTTCATTTGGTGTCAAATTTTAATGC[A/T]GGTCAATTCTACCACGGCATAAACTTTGAGGTCAGTGACTTATTTCCAGG
Long Flanking Sequence:
GCGGCCGGCTCCTCCTCCTCCTCCTCCTCGTCCGGGGCCTCCGCTCCGCCGACGCAACGCTGTGAGCTAGGCGGACAAACTGATTGCGTCGGGAAAGCCCTCCACTCGGAGGCGAGCCGTCGGCCGGCGAGCGCGAAGAGAAGGGGCGGAGCGGCGCCACACCGCCCCGCAGCGTTCGCACAAAAAAAACCAAACGCGGCCTTTACGTACCTCCACGTAAATCGTGGTCTCCAGAAACGTCCGCGGGGCTACGTTTCCAGAATGAGCTTGGGTTGGATGTAACGATTCACTGTGAGCGGGTAGAAAAATCTAATCATAAAGATAAAAGTAGGGGAAATGTTCCTAATTGATCAATATTTGAGTCAAGTGTTGAGGGCTTGAAACAGAACTTTCAAAAAAACAGCATCTTTCTGCAACATTACTGCACTTTTACTTTGTGCAGTTCATTTACTCTAATCCTGAAGTTACCAACAGTTTCATTTGGTGTCAAATTTTAATGC[A/T]GGTCAATTCTACCACGGCATAAACTTTGAGGTCAGTGACTTATTTCCAGGAAAGGACGCTGATAAACAAGATGCCGTTATGTTTGTGAAAAGAAACAAGCTCACAGTTACCAGGTGAATAAAATTAACATAAATACGAATTTACACTTGAGTATAAAAACAATATTAATGCAAATGTTCCCTCTTCCATTGCTCCAGGGGCTGGAAGAGAGATTTCAGACAGGATGTGAAGAATGGAGACGACGTGCCCTGCTGGTTCATTCACAACAATGGCACCGGACTCATCGATGGAGTTCACACGGACTACATCGTCTCTGGACTCTTCAAGACAATATAGGCAAAATCTGTCTTTTAACTGACCTTTGCACTATACAGTAATTAACTGTTAGATTTTATGTAGTCTTAAGTATGTAATATGTGATGGTTGTTGTTTGGATGTATTGCAGAATCTGACAAAGCTCTATTACAAAGCTGTTTTTGATAGGATTTAAAGCCATTCAG
Associated Phenotype:
Not determined