Busch Lab

ZMP

si:dkey-87m23.1

Ensembl ID:
ENSDARG00000012593
ZFIN IDs:
ZDB-GENE-041105-6, ZDB-GENE-081104-44
Description:
Novel collagen protein [Source:UniProtKB/TrEMBL;Acc:B8JL13]
Human Orthologue:
COL5A1
Human Description:
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Mouse Orthologue:
Col5a1
Mouse Description:
collagen, type V, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88457]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa23852 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa23852
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027425 Essential Splice Site 793 2024 15 65
ENSDART00000139598 None None 126 None 2
Genomic Location (Zv9):
Chromosome 21 (position 6595655)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6716747
GRCz11 21 6638998
KASP Assay ID:
2261-5206.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGTGGTCCAATGGGATCTGCAGGCCCTACCGGAAAGCCTGGTAGAAGG[G/A]TAGGTTTGCATTTCGCTGAAATCCCCCAGGCTGGTGTGATTGTTATTATA
Long Flanking Sequence:
AAATAATGTACCAAAACAAAACTATACAAAACAAAAATATCTAGAGATATTTAAATGTTAATATAATTCCTATAATATACAGTGCATATATATTTTATATCTAAATATAAATAAAACATTCATAACAAAAATTAAACAGATAAAACATTGTAATTAATCGTTGCCCAGTGCTATTTTTATTTAATAATCCTATCGCTGCAGCTATTAAACTATCCCTATCTTTTTTTTACAAAACTATTTAATCACTTTTGTATAATAAACATCATTAAAACCTCATTAAACCTAAATTTGCTGCAATATAAAGATGTTTCCAGTCACTACCCTTTTATTTTCATTTTACCACTACCCACAACTACCCTTGGCTCATTTGTCATTTAAGGGGAGAGGCTTATTGATAATGTAGGTCGATTACACAAAATTTACAGACCTGTTTTTGTGTGTTTTAGGGTCCTCGTGGTCCAATGGGATCTGCAGGCCCTACCGGAAAGCCTGGTAGAAGG[G/A]TAGGTTTGCATTTCGCTGAAATCCCCCAGGCTGGTGTGATTGTTATTATATAGTAATGATGTTTTGTGCGTTTTTAGGGTCGACCCGGCTCAGATGGAGCCAGAGGGATGCCTGGACAGACAGGACCCAAGGTAAACCTAGAGAGATTTACAATAAACAGACTGCTTTTAGCATGACACACAATGATGAATGTGCACAGTAAGATGAAAGAAAGGAAGCAGATGGATTATAATTGGGAATAATTGTCTCTAAAAATGTAACTGTCCTGTAATTAGGAACTGTTTTGTGTCTGTGTCTCACAGGGAGATCGAGGATTTGATGGTCTCGCTGGTTTGCCCGGTGAAAAGGGACACAGGGTAAACATGGTTTTTATTTTTCATTTTTTAATTTAATTTTTTTCTTTTATTTATTTATTTTATTTTAATTATTTTTTATTTTTATTTTTTATTTAATTTTAATTCATACAATAAAAATTATTTATGATTATTTTAAGCAGGGTA
Associated Phenotype:
Not determined