ZMP
LOC562072
Ensembl ID:
Human Orthologue:
LTBP1
Human Description:
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:6714]
Mouse Orthologue:
Ltbp1
Mouse Description:
latent transforming growth factor beta binding protein 1 Gene [Source:MGI Symbol;Acc:MGI:109151]
Alleles
There are 9 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa36399 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa23068 | Nonsense | Available for shipment | Available now |
sa7434 | Missense | Mutation detected in F1 DNA | Not yet available |
sa23069 | Nonsense | Available for shipment | Available now |
sa23070 | Essential Splice Site | Available for shipment | Available now |
sa9759 | Essential Splice Site | Available for shipment | Available now |
sa23071 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa36399
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079460 | Essential Splice Site | 280 | 1384 | 7 | 35 |
Genomic Location (Zv9):
Chromosome 17 (position 22882457)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 23032606 |
GRCz11 | 17 | 23052442 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGGAACCAAGAAATATGAAAATGAGTCCCTGATATTTATTTTCACCCTC[A/C]GACATTGATGAATGTCAGCTTCAAGGTGTTTGTCCAAATGGAAACTGCAT
Long Flanking Sequence:
ATACATGTATATATTTTTCATATTTTTTTTATTGTTATTTATTCCATTTTTTTTGTTTGTTTGTTTTGTTTTTGAGTTACATGCTTTAAAGAAATACATTTACTTGATTGCCAGAACTGCATAGGGAGTCAGAGATTAAACTTTTTCAGGCATCAAGAGTAATGCCATGATTTACAGAAAATGCTTACTAAATTGTAATTCAATTTAACAATTGTTACATCATAAACTAGACTGTTTGTGCACAATTCTTTAAACCACTTACCCATTTGTAAGTATTTAATCATTTTTCAATCAAATTTTGTACTGTATGATCGTTTTACTAATTACAGGTCAGAATTTACTTTAAATAGATACATTGCTGAATAGCAAATACTAAAATGAATCTTTCTTTCGTCTGTGGGGTGTAAAAGACTGATTTTTTTTAGACAGTTGATGAAGGTCAGAGTGATTATGGAACCAAGAAATATGAAAATGAGTCCCTGATATTTATTTTCACCCTC[A/C]GACATTGATGAATGTCAGCTTCAAGGTGTTTGTCCAAATGGAAACTGCATCAACACTGTGGGCAGCTATAGGTGTATCTGCAACCCAGGCTTTGTGCCTGATCCATCACTGACGTCCTGCTTCCGTAAGTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTTTATTGGAAGTCTGATTACTTTAGCATGCTCCTGTGTTCTCCATGCTTACATGCTTAAAGGAACCTTTTTAGAAAACATTTTATAACAACTCTAGAGTTGAGTTTTACCATTTTTAATACATTCTGACAATCCTCTGGTCTGGCGGTAGCATTTTTACCTTGGCTTAGCATAGGTAATTGAATTGGATTAGACCATTAGCATCTCACTCAAAAATGACCAAAGAGTTTCGATAGTCAATGCTTGAGTCTTCTGTAGTTACATTGTCTACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23068
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079460 | Nonsense | 342 | 1384 | 8 | 35 |
Genomic Location (Zv9):
Chromosome 17 (position 22887112)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 23037261 |
GRCz11 | 17 | 23057097 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCTTCGCGAGGAGAAGGGTGCTTGCTTCCGGTTTGTCGGTTCAGGGAAG[C/T]AGTGCTTGCACCCTGTGTCCACTCAGCTGAGTAAACAGTTATGCTGTTGT
Long Flanking Sequence:
ATATGTAAACCTAACTCTTGATACAAAACACATTAGATAAACATTATATACTATTAAGATAAACATAATAGTTATAGTATATTTAAGCAATGTCTGATCAACCTTTTTATTTATTAACCCTCGCAAATGACCTTTCTTACATGCTTCCTGCTTAACTGACCTCTTTGCACAATGACGGATGTATTCCTGTCCTGTGTTTTTTTTTGTCACTCTTTGGTCTAAAAAACAGAATCCTTTTTCACACACATTCCTATCCCCTACACTTTTAATGTGGTATAGAGGCAGTTGTTCTTTTGTTATGGCAATGTAGTCGTGCACAGATGGAACACAAGGTGAAGGGAATCTCTCTTCTCTTCTGTTGTTCTCTCTCTTCCATGTTTGTGTCGTACACCATGCACACTCCTCTCCTCCCTCCTTCCTTCCACCTCCACCAACCAGCCGAAACACCTGCTCTTCGCGAGGAGAAGGGTGCTTGCTTCCGGTTTGTCGGTTCAGGGAAG[C/T]AGTGCTTGCACCCTGTGTCCACTCAGCTGAGTAAACAGTTATGCTGTTGTAGTGTGGGCAAGGCCTGGGGTCCTCATTGTGACCGCTGTCCTCTACCTGGGACAGGTAAGATCCCTGAGACGCTCCTTTTGGTTTCACCTGTTCTACTGGCATCACTCCCTCTCCTCTGTCCATCACATGACTGTAGTTTGCATGTGTTATTGCTATTTAGGTGCTTTTACGTGCCATCACTGTTTTTTTTAGTTGTGCTGTAGATTTTGTTTCCACTTTCATACACACTTGTTCTTTCATGTTTGTGTTTGACTTCCTGTAAGTGCTGCATTCATGGGCTGCATCAGAGACTAAATTAATATTTGTCTTAATAGTATTGATATGTAAGAAAACTGTTGTAAAAAAATTTTTTTTTCTAAGAAGAATCTTTCAGTTCATTTATGTCAGCTTGATTTACTGATATATGGGTAGATAGAAGATGAGTGAATGGATGGAAGGATGGATGAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7434
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 > G
Consequence:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079460 | Missense | 351 | 1384 | 8 | 35 |
Genomic Location (Zv9):
Chromosome 17 (position 22887140)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 23037289 |
GRCz11 | 17 | 23057125 |
KASP Assay ID:
554-4034.1 (used for ordering genotyping assays)
KASP Sequence:
CCGGTTTGTCGGTTCAGGGAAGCAGTGCTTGCACCCTGTGTCCACTCAGC[T/G]GAGTAAACAGYTATGCTGTTGTAGTGTGGGCAAGGCCTGGGGTCCTCATT
Long Flanking Sequence:
CACATTAGATAAACATTATATACTATTAAGATAAACATAATAGTTATAGTATATTTAAGCAATGTCTGATCAACCTTTTTATTTATTAACCCTCGCAAATGACCTTTCTTACATGCTTCCTGCTTAACTGACCTCTTTGCACAATGACGGATGTATTCCTGTCCTGTGTTTTTTTTTGTCACTCTTTGGTCTAAAAAACAGAATCCTTTTTCACACACATTCCTATCCCCTACACTTTTAATGTGGTATAGAGGCAGTTGTTCTTTTGTTATGGCAATGTAGTCGTGCACAGATGGAACACAAGGTGAAGGGAATCTCTCTTCTCTTCTGTTGTTCTCTCTCTTCCATGTTTGTGTCGTACACCATGCACACTCCTCTCCTCCCTCCTTCCTTCCACCTCCACCAACCAGCCGAAACACCTGCTCTTCGCGAGGAGAAGGGTGCTTGCTTCCGGTTTGTCGGTTCAGGGAAGCAGTGCTTGCACCCTGTGTCCACTCAGC[T/G]GAGTAAACAGTTATGCTGTTGTAGTGTGGGCAAGGCCTGGGGTCCTCATTGTGACCGCTGTCCTCTACCTGGGACAGGTAAGATCCCTGAGACGCTCCTTTTGGTTTCACCTGTTCTACTGGCATCACTCCCTCTCCTCTGTCCATCACATGACTGTAGTTTGCATGTGTTATTGCTATTTAGGTGCTTTTACGTGCCATCACTGTTTTTTTTAGTTGTGCTGTAGATTTTGTTTCCACTTTCATACACACTTGTTCTTTCATGTTTGTGTTTGACTTCCTGTAAGTGCTGCATTCATGGGCTGCATCAGAGACTAAATTAATATTTGTCTTAATAGTATTGATATGTAAGAAAACTGTTGTAAAAAAATTTTTTTTTCTAAGAAGAATCTTTCAGTTCATTTATGTCAGCTTGATTTACTGATATATGGGTAGATAGAAGATGAGTGAATGGATGGAAGGATGGATGAATGGACGGATGGATGGATGGATGGATGGATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23069
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079460 | Nonsense | 808 | 1384 | 22 | 35 |
Genomic Location (Zv9):
Chromosome 17 (position 22905403)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 23055552 |
GRCz11 | 17 | 23075388 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTGCGTCAATATCTTAGGGTCTTACCAGTGCAATTGCCCACAGGGGTA[T/G]AGACAAGTCAATAGCACCAGCTGCCTTGGTGAGATAATCCTACACACACA
Long Flanking Sequence:
TTGCAGCCTCCAGTACTGTTGTCAGTTTGGTGTGTCAGGGATTTTATATGTTGTAGCTTTTTATGTAAGTTATGACAGCACTGTGACTCTCAATTTGCAAGTCACACAAACAGGTTGAATAAATCAATAAAATAAAATAAAATCAATCAATAAAACATATAAAATATAGATAAACATTGTGTATGTGTGTCACAGACATTGATGAATGTCAGGACGATAACGTGTGTATCCAAGGTCACTGTCAAAACACACAGGGGTCATTCATCTGCAACTGTGAGCCTGGCTTCAAACTGTCGTCCTCAGGAGACCAATGTGAAGGTACCAGACTGAATTTGTGTGCCATATATATTCATGTATTCATGTTACATCTAAGATTGATGCTGAGATATTCTGATGTTTACAGATGTGGATGAGTGTTTGGTGATACCTCAGACCTGTGATGGTGTGGGCCAGTGCGTCAATATCTTAGGGTCTTACCAGTGCAATTGCCCACAGGGGTA[T/G]AGACAAGTCAATAGCACCAGCTGCCTTGGTGAGATAATCCTACACACACAAACACACACATATAAGCAGAGGCTGTGTTCAGAATAGCATATTATAATCATAATACTCTTAGGGTGCATGTCCACCAAATAATGTTTCCTTATCTGATCTTATTTTTTTTGTTTTTTGTCAATTTTAAGACCCATATTTTTTTTATAAAACCAGCAGCATACACTACCAGACAAAAGTATTGTTTTCAATCCAAGTAAATAATAACTTGACTTCTAGTTGATCACTTGGAAAAGTGTCAGAAGGTAGATTTTTCAGATGAATCATCCCAATCATCACAAATACTGCAGAAGACCTATTGGAACCCGCATGGACCCAAGATTCTCAGAGAAATTAGTCAAGTCTGGTGAAGGAAAAATCATTGTTGGGGTTACATTTAGTATGGGGGTGTCTGGAGAGTGGATGGTAACAACAGCCTGAGGTATCAAGACATTTGTGCTGCCCATTACATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23070
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 |
---|---|---|---|---|---|
ENSDART00000079460 | Essential Splice Site | 946 | 1384 | 26 | 35 |
Genomic Location (Zv9):
Chromosome 17 (position 22918737)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 23068886 |
GRCz11 | 17 | 23088722 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTTCATTGTAATGAAAGAAAAGTAATGAAACACTTTTACTTGTCTGCA[G/A]ATGTGAATGAGTGTGAGCTTCTCGGTAATGTGTGTGGTGAAGCCACCTGT
Long Flanking Sequence:
ACAGCCGGTGGTCAGTTTGTGTGAAAATGGACCTTTCTTTCACACTTTGATCCAAATAAATCTTAGCATTGCTATCATAGAATATAACCATGTCATACAGCTCACAACATTGTTGTATAAGAAGTTAAAAGCTGCACACTGCATCAGTTAGTGTTCAAGGAGTTGTTGGCAAGCAAATAACAAGCCAGAAGCATTTTGATTGCAGCAATAAAGATTTAATCATAGACTCTTAAGTATTTGCTTACTTAAATTCAAACAGTCACATTTTTGGCAGCGTACATCTCCAAATCTTCAGATCATTGAGTAGAACTCCAGAAAAGTGAATAAATCATTTCTTTAAGCCCTTTATTTTGACTGAACCAAATTAAACTGATTCATTTTTGATTGAACAATTGTGTCAAAAAAAGTTAAACAAATCACTTCATTGTTCTTCATTTGACTTTAGATTGTGTCTTCATTGTAATGAAAGAAAAGTAATGAAACACTTTTACTTGTCTGCA[G/A]ATGTGAATGAGTGTGAGCTTCTCGGTAATGTGTGTGGTGAAGCCACCTGTGAGAACCGTGAAGGCACCTTCCTGTGTTTGTGTCCTGATGACCTGCAAGAGTTTGACCCAATGCTTGGCAAATGCATCTCTACACCTCCAGGTAATGTCGCACTCGACTGTAAACCACCACAACACGATTGACCAGTTTGTGATCTAAAAGAAACCCAAATGCTTCAAGCAAGCCTGTTTCCTTTAACCCAAACCTACAAGGCTACCATTGTGCCACAGATTACCTTTTATCTGGACAGGTGACCCTTGTCGTCCTCCTACGGAATTTCATTGTGTACCTGAAACGATTCTGAAGCTCTTCACGTTTTAATCTCAGCCATGGAGATCCTCTAGTGCAACAGGACATTAACTTCCTATCATCAGAGTCCAGCTCTGAGTAGAACAGAGGGAGGCAAGGCGTGATGAATGGGGGTTGTAAACGATCTGGCAGGAGAGAAATGAGATTCAGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9759
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079460 | Essential Splice Site | 1133 | 1384 | 30 | 35 |
Genomic Location (Zv9):
Chromosome 17 (position 22929284)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 23079433 |
GRCz11 | 17 | 23099457 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAYTGCAAATCTGGACTCTACTACGATGAGAGCAAAYTACAGTGTCTCGG[T/G]AAGAAACAAAAATCGCAGTCTAAACWAAAATGTTCATTAAGATTTTATGA
Long Flanking Sequence:
TCTCAGGGCTCGTCTAATGCACTGATTTAATTTATGAATGCAGCAAGAGTGTGGTTTCTCTTTGGCTGGTGGCAGTGCGAGTGAATGCAATGTGGTTTGTGTGTGTGTGTCAGTGTACCTTTGAATGGAATGCTTATATATGGAAAGGACATTTCCTCCCAATCATTCTTCAGTCAAATGAAATTTCTACATGTAGCAGATCCCAAAATAAGAACACTAACAAGAGCATGGAGAGACTGTATGTGTGGTGATCTGTAACTGTGATCCAGGGTTTCTAGTTCTTAACTAGTGTATGTGCGTGCGTGCGTGCGTGTGTGTTTATTTGTTTACAATTAAATAATGAAAAAGTGTTGATGTGTGTGTTAAGCAGATGCAGATGAATGCCAGCTCTTTGGAAGTGAGATCTGTAAAGATGGCTTTTGTCTCAACACCGCTGGCTGGTATGAGTGTTATTGCAAATCTGGACTCTACTACGATGAGAGCAAACTACAGTGTCTCGG[T/G]AAGAAACAAAAATCGCAGTCTAAACAAAAATGTTCATTAAGATTTTATGACTTTTAATTCCTGCTGAGTGCTTCCCAGTGTTGGGTTGCAGCTGAAAGGGCATCTACTGTGTAAAACGTATGCTGGATAAGTTAGCAGTTCATTCCGCTGAGGCGACCCCTGATGAATAAAGGTACTAAGCCGAAAGAAAATGAATTCCTGTTAAGAAGAACATACTGTAAGTTGTGGTTTTTGCAATAGAAAATCCTTGATCTAATAATTCATATAAAAAAAACATTAACAAAAGTCACATTTGATGGTATTTTAAATCATATAAAATGAGTTTTTGCATATTTAAATGATGAAAAATCTGATTAGAGTTAAATTAGCTAAAATGATCTGTTATGCCTGTCTAAACAAGGTGCCCAAACAATGTTAAACTGCCATAAATGTAATTACTGAATATTACATATAATATCACAGTGTTGCTCATTGTGATGCACAAACTAAATCACTGCTCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23071
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079460 | Nonsense | 1138 | 1384 | 31 | 35 |
Genomic Location (Zv9):
Chromosome 17 (position 22931794)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 23081943 |
GRCz11 | 17 | 23101967 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTTTTCTGTTTCTCTTTGTCTCTGATCTCTACAGACACTGATGAATGC[C/T]AAGATGAGGCAAAATGTAGAGATGGTGAATGCATGAACACATATGGCTCA
Long Flanking Sequence:
CATGCAAACTCCATACATAAATGCCAACTTAACCAGCCGAGGCTCAATCCAGCAACCTTCTTGCTGTGAGGCGATTGTGCAACCCACTTTAATTACTTGCTGAAACATCATGTAACTAAAATACTGCTCCCTATAAAACATAATAAAGTTATAATACCTGGAGTAAATATTGAAATATTTGTACATTATGCATAATTACAAGCTACCTAACCTTAAACCAAGCCTTTCCCTTTCGACAGTAAAACTGTACTTATAACATGTTTGCAATCATTTTAGTTTGTACTTAATTCTATAGTTACTCTGCAGAAAGGACTTTAGTATTTATTTAATGAATGCATTGTCTTTATGGCAAATTGCTTTATGTTGGTGAATGTTTTTGCATCTACTGTATTCTATGTATACTCAGACCAGCCTGACTTAGCTTTCCATCAATGATCTAGCTTATTGATTTTTTTTTCTGTTTCTCTTTGTCTCTGATCTCTACAGACACTGATGAATGC[C/T]AAGATGAGGCAAAATGTAGAGATGGTGAATGCATGAACACATATGGCTCATATCAGTGTTTCTGCACCCCTCCTATGGTTCTGGCAATGGACAACACACACTGCATATTACCCGACGTAGCAGGTAAAGTCTTACGTCAAATATTATGCAGATGATAATCCTGCATGTAAATTCTACTCCTTAAAGACTGTTTCTAAATCACAATCCTGGAGACCTCCAACACCTCACATTTTGGATGTTCCCCATATCTATCATCTTATCGGGCTAATTAGCTTATTAGGAAAGTCTCCATGACCTGAATTGAGTGTGTCAGATTAGTGAGACACCTAAAATCTGTATTTGTTGGGGTTCCTTGAGGAGCTCTTAATCCTTTAAAATCTAAACTCTCTCAAACCTATAGTGTGTCCTCTAAACCCCTCAATTGTACAAAGTGAAATTCCTAACAATGTCATACTGCCATCTAGAGGATGCTCAGAACAAGCTATTTCTTTCAGACTGTA
Associated Phenotype:
Not determined