ZMP
col4a2
Ensembl ID:
ZFIN ID:
Description:
Type IV collagen alpha 2 chain [Source:UniProtKB/TrEMBL;Acc:Q58FS6]
Human Orthologue:
COL4A2
Human Description:
collagen, type IV, alpha 2 [Source:HGNC Symbol;Acc:2203]
Mouse Orthologue:
Col4a2
Mouse Description:
collagen, type IV, alpha 2 Gene [Source:MGI Symbol;Acc:MGI:88455]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa18379 | Essential Splice Site | Available for shipment | Available now |
| sa21438 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18379
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 |
|---|---|---|---|---|---|
| ENSDART00000011757 | None | None | 1037 | None | 22 |
| ENSDART00000081513 | Essential Splice Site | 524 | 1697 | 22 | 48 |
Genomic Location (Zv9):
Chromosome 9 (position 8901869)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 8867678 |
| GRCz11 | 9 | 8846008 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAGGGTGATCAGGGAGATCCAGGARCCAAAGGTSCCAATGGTTTGCCTG[T/C]AAGTTGCCAACAYCACATCTTGTTGTCACACGGYTTAWGAAAATCTTTGC
Long Flanking Sequence:
TTTTTAATTAGTCTTCAATCATGTTAATAGTTGATCTGAGGTAAAATGAGCAGACACCTATGGAAGAGAGACATCAATACTAAGTATTATAACATACTTAAGACTTAAAGACTTTCAATGTGTCTTAATACAGTGGAAGAGTACTTCAAAGGTTCTCCTGGACACCGTGGACGTCCAGGGAGTGCAGGAAAAAAGGGGCCAAAGGGTAAGCTAAGTGCATATAAAATTGCTTTAGGATTTTTAAATACTTGCTAATGCATAGGACTATGAGAAGAACCTTTGTCCGTTTTTGTTAGTATTGTTTTACTGGTTTTAACAGTTTTTTTGTTTTGTTTTTACCACTTGCTTAGGTGACCATGGTCTGTGCGAATGCAGTGTAAAACCCCCACCTGGTCCCCCGGGACCTCCTGGTGATTCTGGGGATCCTGGGATGGCAGGTGAGTGGGGTCAGCAGGGTGATCAGGGAGATCCAGGAACCAAAGGTGCCAATGGTTTGCCTG[T/C]AAGTTGCCAACACCACATCTTGTTGTCACACGGCTTATGAAAATCTTTGCACTTGCCAAAGCAAAATGCAATTTTACAGGGTTTTCCTGGCACAGAAGGATTACCTGGGCCCAAAGGCAGAAAAGGAGAGCTTATGGAAGCTGTGCAGAAAGGTGCAGTATTCATCTATAGCGTGTTTAGATAATACAAGAGGTCATATACAACTATATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGCACTTTGGAACTACAGGATCAGCTGGTGACCCAGGAGACCCAGGTCACAGTGGTTTCCCTGGAGAACAGGGAAGACCAGGGATAGATGGCAGAGATGGTGAACCAGGTTTTAGAGGGCCTCCTGTAAGTATTAGATCTAATTAAAAGACTAATTTCTTGAGTGTGGTGATTCCACTATTAATCACACTTTAATTTTTCTACTGGACAATTGCAAATTGTGCAAAATGAAAACAAAGGTGACTTAAAGGTCACTTTAAAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21438
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 |
|---|---|---|---|---|---|
| ENSDART00000011757 | Nonsense | 422 | 1037 | 10 | 22 |
| ENSDART00000081513 | Nonsense | 1079 | 1697 | 36 | 48 |
Genomic Location (Zv9):
Chromosome 9 (position 8922486)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 8887984 |
| GRCz11 | 9 | 8866314 |
KASP Assay ID:
2260-1511.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCCATAAACAAAAAAATGTTTATAAAGGATTCCTTTATTTAAGGTGACT[T/A]GGGGCCTACCATCAGTCTTCCAGGATCAACAGGACTGAGAGGTGAAACTG
Long Flanking Sequence:
TAGCTCCATTTCTGTTTTCTAGAATTCATAATTTTAGACTTATTGTGATTATTTCATTGGACAGTGCATCTGCACAAAACATAATACACACAATACAAGCACATATAAATAGAGTAAAACCAAGACACAAATGAAATAGTGCTTTATGGTTGCCTGGAGATTAAATGCAAATAATTCTGTCACTGTACAATCTTCGTTGTCTAAAAAACTGAATACAATTAATCTTTGTTAAAGCTACAAACATTATAATTCCTTATACACAAATGGTTTAAACCTAAGTTTAAATACTTTCCCTCTGTTAAGGTTAAACTTCGTGATTACTCCACAATTTTTAGAGCACACATTTCAGATCCTGCAAAGTGACTATTGCAAATGCGCACTTTACTTTAACGATGTGTCGTGCAGCCCTAAACCATATCAGATATTAATATTGGATGTAGACTTTCTGAACTCCATAAACAAAAAAATGTTTATAAAGGATTCCTTTATTTAAGGTGACT[T/A]GGGGCCTACCATCAGTCTTCCAGGATCAACAGGACTGAGAGGTGAAACTGGACATCCTGGAAGTACAGGTTAGAAATTTATATATCATGGAATACAACGGACATCATCCAGGACTTGTATTGTACCTTTAATTACGCCTCTTATTTAATATATATCTGATAGGTGCGAAGGGACTCTATGGTATGCCTGGAGAAAGAGGAAGTTCAGGATTAGATGGAATTGAAGGGATGAAAGGCTACCAAGGTGAACCTGGGACAGTTGGACCACCAGGTACGACGCTTCTTCACTAATGTATTTTTATGTGATGACTTTTATGACTATTTTATGTTACTTTGAGAAAACCTTGCTTAGATTTTTAAAATGGGTTTGTAAGCTATAAGTTTCAATTAAAGGATGAAAAAGAGAATGTTGTAAGGATAGTAACACTTTTGCACAATGCTTAGATAAATTAGCATATTAGCTGCATTTTTTAACTACCATGTTAGCTAATGTTTTAGCAT
Associated Phenotype:
Not determined