ZMP
COL4A3BP (1 of 2)
Ensembl ID:
Description:
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein [Source:HGNC Symbol;Acc:2205]
Human Orthologue:
COL4A3BP
Human Description:
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein [Source:HGNC Symbol;Acc:2205]
Mouse Orthologue:
Col4a3bp
Mouse Description:
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein Gene [Source:MGI Symbol;Acc:MGI:191
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37202 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37202
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 |
|---|---|---|---|---|---|
| ENSDART00000013851 | Nonsense | 12 | 483 | 1 | 13 |
| ENSDART00000108553 | Nonsense | 12 | 510 | 1 | 14 |
Genomic Location (Zv9):
Chromosome 21 (position 2332774)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 2539961 |
| GRCz11 | 21 | 2565785 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTGTCTCTATGTTAAAGGCTGAATCTGGTTATGGATCTGAATCCAGTT[T/A]GAGGAGACACGGCTCCATGCTGTCCCTCACATCTGCCACCAGCGGATACT
Long Flanking Sequence:
GGACTTCTAGCGCGAGTTTGGTGCTCAAGTCTGCATCAGTGCGTCCTCGATATCAAGATCACATCCTGGAAGTTTCATGCGTCCTCTGTACTTGCGGTCTTGAGTATTGGAACTGCACTTATGTAGCCGATGATGACGTAACACGAGGTCGCAAGACCGCTGAAGAACGCATATTGAGAAACAGCCATTGTATAACACTGGTTTGTTCTGGAGACAATCCAAAACTAATATTGCTGAAGGGGACTAATAATATTTACCTTAAAATGCATTGAAAATAATTAAAAACTGCTTTTATTCTCGCTGAAATAAAACAGACTCTCTCCAGACGAGAAAATATTATAGGAAATACTGTGAAAAATTCCTGAATCTGTTCAAGATCATTTGGGAAATACTTGAAAAGGAAGAAAACATTCATCTGTCAGACTTGGGCTGTGTTTCGCTAATCTCTCTCTTTGTCTCTATGTTAAAGGCTGAATCTGGTTATGGATCTGAATCCAGTT[T/A]GAGGAGACACGGCTCCATGCTGTCCCTCACATCTGCCACCAGCGGATACTCAGCCACCTCCACATCCTCCTTTAAGGTGAAAACACACACACTTACAACATCAATCAGTGCTAATAATAAAAACACCACTGCTTTATAAGTCGATAAACTAGTCTGAACTCAAACAACACTGTACACTAGCTGACAGAAGTCTTGTCGCCTATCCAAGTTTTAGGAACAGCAAATAATAACTTGACTTCTAGTTGATCATTTGGTATCAGAAGGGGCTTATATGAGAGGTAAAGGCCTCTAGATGACGCTTATTTGAGCACAATAAAATATAATCATGCCTTGATTTTGACTGATTTAATTAGGACAGTAAGGTCTGACTTTGCCTAGACTAAAGTCTTGTGACTGAACAGAAATAATGTCCAGTATAGAATATAAAGTCCTGCTGCAGTGGAGACAGAATGAATATTGTGTCCGACTCCATCATGAGCTTGGAGGACTGCATCCACACA
Associated Phenotype:
Not determined