ZMP
col1a2
Ensembl ID:
ZFIN ID:
Description:
collagen alpha-2(I) chain [Source:RefSeq peptide;Acc:NP_892013]
Human Orthologue:
COL1A2
Human Description:
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Mouse Orthologue:
Col1a2
Mouse Description:
collagen, type I, alpha 2 Gene [Source:MGI Symbol;Acc:MGI:88468]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa1763 | Essential Splice Site | Available for shipment | Available now |
sa17981 | Essential Splice Site | Available for shipment | Available now |
sa32257 | Nonsense | Available for shipment | Available now |
sa36897 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa1763
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 |
---|---|---|---|---|---|
ENSDART00000042990 | None | None | 1352 | None | 50 |
ENSDART00000144544 | Essential Splice Site | 24 | 1352 | 2 | 50 |
Genomic Location (Zv9):
Chromosome 19 (position 41945790)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 41398044 |
GRCz11 | 19 | 40985164 |
KASP Assay ID:
554-1756.1 (used for ordering genotyping assays)
KASP Sequence:
TCTTTTCTCTGTCTTTCTGTTTTCCTCCTCCACCCCATCGCCATCACACA[G/A]CGGTCAGTATCCAAGTTATTACACTAATAGAGATATTTACCTTATCTGAT
Long Flanking Sequence:
TTAAAATGTTTAAAATATTAATAATATTTTTAAACGCTTTTTTTTTAAAACAACTATAAGGATGTAATTTTTGCTTTGGCATTTTTTTAGACATTAAAATACACTACAATATTTCCACCCACTCTTATGGACACAAAATCATAATAAATGCAAGTTTAACAAAATATGCCAAAATAAAAACAGCAAAATATGCCAAAAATTCAGTTCAGGCCTACTAAAATCAGGTTGATTTAAGCAATCATCACATTCATTGCAAAAATACCATTGCATTATTCATCTATTTTAGCATTTATTTTTGCATGCATTAGGCATAAACATTTACATATTTCTGTTGGATGTCTGGAATCATAAACAGTAGGCTCTTCTGTTTCTTTTTTTTTATACATAAATGTCTCAACATTCATAAATTCAACATGATGTGGCGTTCATAACTCTAACGAATCACCTCTGTCTTTTCTCTGTCTTTCTGTTTTCCTCCTCCACCCCATCGCCATCACACA[G/A]CGGTCAGTATCCAAGTTATTACACTAATAGAGATATTTACCTTATCTGATCTCAGATCTCCAAATGGATGATGATGATGATAATCGGTGAAAAGATCCTTCGGTCGATCTCAAATATTCCAGAGCATTTCGGATATCGGACTTTCTGGGTTTTTCCTTCTTGCCTGTGACGGGAAGGAGGAAAGCACGATTGGCTTGAGCAAATGTCAATGAAACTAGAGACCACCCTATCCTGCATAGCACACAACCTGGGCACAATGGCTCTTTTTAGATGGCCTTCCGAAGAGGTGGACTCAGGATAACAAAATCAACATGCTGCCGAAATTCCTCCAAGCTGGCGGATTTTGCCCAGCAGTTCCCTCAAGTGGACAAAACACATAGCATAGATTACTGGAATTGGCATAAATATGGAATATTATTTGGGGTCGACTCAAAACTTCTCACCTGAATATCACATTGATCACTAACAACAGAAGGTGCTTAAAGGAGCGGAACAAGAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17981
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000042990 | Essential Splice Site | 153 | 1352 | 10 | 50 |
ENSDART00000144544 | Essential Splice Site | 153 | 1352 | 10 | 50 |
Genomic Location (Zv9):
Chromosome 19 (position 41948173)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 41400427 |
GRCz11 | 19 | 40987547 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTAGTAATATTTCTAACAAGGATCTTCATCNTTTTTTAATGTTTTCCAA[A/G]GGGTGCCCGTGGTTTCCCAGGAACTCCTGGACTTCCTGGCATGAAGGGAC
Long Flanking Sequence:
AGCATTTGAATTTTTCATGCCTCAAAAAATAAATATAACATAACATATCTTGATGTTTTTGTGAATATATAGGGAGCTCAAGGACTGCAAGGACATGCTGGTGAGCCTGGAGAGCCCGGACAGGCTGTGAGTGCTCTCTGGTCAACACTGTGTTCACACGGTTTGGAAATTATGTTTGAACTTTAACACTGATTTCTCTATCTGTCATCTCTTTACAGGGAGCTATTGGTGCTCGTGGCCCTCCTGGACCCCCTGGCAAAAATGGTGAAGATGTGAGTGTTATAATTCCATGTGCTAATGCTGAAATTATAACCGAACCGTGCATAACTCTATATTCATCTTCTTCTCAAAGGGCAACAATGGCAGACCTGGAAAGCCTGGAGACAGAGGAGTCCTTGGAGCTCAGGTAAGAGAGTCATAGATGTGTAAATCAGTGATGTATGCATCTACCTTAGTAATATTTCTAACAAGGATCTTCATCTTTTTTTAATGTTTTCCAA[A/G]GGGTGCCCGTGGTTTCCCAGGAACTCCTGGACTTCCTGGCATGAAGGGACACAGAGTAAGTTAGTAGTGTTGAGGACTGATGAGAAGACATAAGAAGCTGAAATTTGAGTTTTATTCATTTACCAAAAGAAGTCAAGGTCTCATGATCTTAATATCTTCCTCCTCAGGGTTACAATGGTATTGATGGACGCAAAGGAGAGCCTGGCGCAGCTGGTGCCAAGGTAAAGACACACACATGCACATGTAAAAGTTTAATACCTTAAAATGTTTCAGACTACACAGATATGCATCTTTAAAAATACATAAAATTATTACAGATTGTGTTTCCCAGTACTGGGTTGCAGCTGGCAGGGCATCTGCTGCATAAAACAAATGCTGGAATGGTTGGTGGTTCACTCTGTTGTGGCAACCACTGATAATTAAGGGACTAAGCCGAGGGGAAAATGAATAAATATTCCATTTTGTAGAATGAAACCCAATTCTTGAAAGTGCTAATGCTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32257
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000042990 | Nonsense | 879 | 1352 | 39 | 50 |
ENSDART00000144544 | Nonsense | 879 | 1352 | 39 | 50 |
Genomic Location (Zv9):
Chromosome 19 (position 41959357)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 41411611 |
GRCz11 | 19 | 40998731 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAATGGTCTTCCTGGCTCCAGAGGTGACCGTGGTCTTCCTGGTATCCCC[G/T]GATCAGTTGTAAGTGCAATGACTTACCTCTTGATTCTGACTGTACTCAAA
Long Flanking Sequence:
TAGAGTTGGACCTCCTGGTCCTGCTGTAAGTAAACTCAGATTATTCTAAATTTACTTGTTCAAATCTAAAGTTTTAAAACAATTGCTTAATTTTAGAATGTAATGATTTTTGGTCATACATGTAAAATGTTTCTCTTCACATCAATTAGGGTATTGTTGGACCTGCTGGTCTCACTGGTCCCGCTGGAAAGGATGGCCCACGTGGTCCTCGTGGTGATGTTGGCCCTGCTGGTCCCCCAGGAGAGAATGGAATGATTGGACCTCTTGGTCTGGCTGGTGAGAAGGGACCCCCTGGAGAGGCTGGTGCACCTGTAAGTTCTAACTGAACAAAAGCGTTAATCTCAAAATATTACCAAGTATATATTACATCACAATAAACTTTTATTTTTTTTCAAAAATAGGGAGCACCTGGACCTGCTGGGCCTCAGGGTCAGCTGGGATCACAGGGATTCAATGGTCTTCCTGGCTCCAGAGGTGACCGTGGTCTTCCTGGTATCCCC[G/T]GATCAGTTGTAAGTGCAATGACTTACCTCTTGATTCTGACTGTACTCAAATTGATTAAAAAAATAGTTAAAGTGTTAATCTGATTTTGAGTGTGTCTGTGTTCTTTAGGGTGAACCTGGAAGAGTTGGCCCTGCTGGTGCCCCTGGTGCCCGTGGACCCGGTGGCAACATTGGCATGCCTGGTATGACTGGTCCTCAGGGTGAGGCTGGACGTGAGGTGAGTTATAGACTTATTTTTTCATAACACCCTTGGTGGGTACTTTTTTCATGCATTTACAATTGCATCTGTGTTGTTTTGTAGGGAAGCCCTGGCAATGATGGACCTCCTGGCCGTCCTGGTGCTGCTGGAATTAAGGTATTAATTTCTTAAATGTTATACAAATTTCACACGCATCTCTTCATATTTCCTATTATATCTAAGTAGAAATAGCTTTAATTACCAATAGAGTGTTTATATAAATAAATTAATTGAATTGTATTATTTTAACCAGGGTGACCGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36897
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 |
---|---|---|---|---|---|
ENSDART00000042990 | Essential Splice Site | 936 | 1352 | 42 | 50 |
ENSDART00000144544 | Essential Splice Site | 936 | 1352 | 42 | 50 |
Genomic Location (Zv9):
Chromosome 19 (position 41959846)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 41412100 |
GRCz11 | 19 | 40999220 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAATAGAGTGTTTATATAAATAAATTAATTGAATTGTATTATTTTAACC[A/T]GGGTGACCGTGGTGAGCCTGGTTCCCCTGGAACTGCTGGACCTGTTGGTG
Long Flanking Sequence:
CTGGTATCCCCGGATCAGTTGTAAGTGCAATGACTTACCTCTTGATTCTGACTGTACTCAAATTGATTAAAAAAATAGTTAAAGTGTTAATCTGATTTTGAGTGTGTCTGTGTTCTTTAGGGTGAACCTGGAAGAGTTGGCCCTGCTGGTGCCCCTGGTGCCCGTGGACCCGGTGGCAACATTGGCATGCCTGGTATGACTGGTCCTCAGGGTGAGGCTGGACGTGAGGTGAGTTATAGACTTATTTTTTCATAACACCCTTGGTGGGTACTTTTTTCATGCATTTACAATTGCATCTGTGTTGTTTTGTAGGGAAGCCCTGGCAATGATGGACCTCCTGGCCGTCCTGGTGCTGCTGGAATTAAGGTATTAATTTCTTAAATGTTATACAAATTTCACACGCATCTCTTCATATTTCCTATTATATCTAAGTAGAAATAGCTTTAATTACCAATAGAGTGTTTATATAAATAAATTAATTGAATTGTATTATTTTAACC[A/T]GGGTGACCGTGGTGAGCCTGGTTCCCCTGGAACTGCTGGACCTGTTGGTGCTCCTGGACCCAATGGACCATCAGGCGCTGTTGGCAGACCTGGAAACCGTGGTGAATCTGTATGTGCCAATAAAGTCACAACATTTCCTGCATTACATGAGATTATACCATTTGTAATCAATCCAATTTTTCATACTTCCTTTAGGGTCCTTCTGGTCCTACTGGCGCTGTTGGACCTGCTGGAGCAAGAGGTGCACCTGTAAGTATGTCAGACATTATCCTTCTCAAAAGAACTCTCAAGTATGGAGCCAGTCTATGAACAAAGACTCCTTTTAAATAAAATCTCCTTGTTTTACAGGGCCCTGCTGGACCTCGTGGTGAGAAGGGTGTTGCTGGAGAAAAAGGAGACAGGGGTATGAAGGGACTTCGTGGACATCCTGGTCTGCAGGGAATGCCCGGACCTAACGTAGGTTATCAGTTTAAATGAATTTTTCCAATGTAAACAGTTTT
Associated Phenotype:
Not determined