ZMP

ENSDARG00000090467

Ensembl ID:

Human Orthologues:

COL9A1, COL9A2, COL9A3

Human Descriptions:

collagen, type IX, alpha 1 [Source:HGNC Symbol;Acc:2217]
collagen, type IX, alpha 2 [Source:HGNC Symbol;Acc:2218]
collagen, type IX, alpha 3 [Source:HGNC Symbol;Acc:2219]

Mouse Orthologues:

Col9a1, Col9a2, Col9a3

Mouse Descriptions:

collagen, type IX, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88465]
collagen, type IX, alpha 2 Gene [Source:MGI Symbol;Acc:MGI:88466]
collagen, type IX, alpha 3 Gene [Source:MGI Symbol;Acc:MGI:894686]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa24790	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa24790

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

A > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000122269	Essential Splice Site	542	607	28	28

Genomic Location (Zv9):

Chromosome Zv9_NA466 (position 22883)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	KN150214.1	22883
GRCz11	KN150214.1	22883

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ATTTATGTATAAATGTTTTCTAATTTTATCAATTGTGATTACTTCAAAAC[A/T]GGACCAGCTGGCAAGCCTGGCATTGGTAAAGATGGTCAGGATGGTGCCAA

Long Flanking Sequence:

GTCCAGGCAATTGAACCAACTGTGAAAGCACCCTAAAACACCTCATCCAAGTCCCAGATGCCATTGAATGTGAGCACTTGCCAACTTAAGTCAGTTAAAAAAGCAAACTGCAGTCAAGTCAAGACTCAGATGACCACAACGAGCATATGAGCTTTCTTGAGACAATTTCTGACAGTTTGTACAGAAATTCTTTGGTTATGCCAACCGATTGTTGAGATTCCTGCAGTCAGCATGCCAAGTGCATACTCCTGCAGTTGCCTAAGAGAATTCAAAAGTGAAAGTCACGGTATAATCAGATATAATGTGTTCATTCTCAAGCACAGTGAGCAAACGATGGCCTTTTTAAAGCCTTAATATAAGGGAAACCAATGTAAGACTTTTTGTAAGACCCCACTGAAACCCTGCATGTGTACCAAATAAAGTGGCTGGTGAGTGTCCATCATATGTTGAATTTATGTATAAATGTTTTCTAATTTTATCAATTGTGATTACTTCAAAAC[A/T]GGACCAGCTGGCAAGCCTGGCATTGGTAAAGATGGTCAGGATGGTGCCAAAGGAGAGCCCGGTTTGAATGGGACCCCAGGAACACCAGGAGCAAGAGGAGCCACTGGTGCACCTGGTCTTTGCGATCCTTCAAACTGCTACAGGCCTCAACCTCTTTATCTGCTTGGTGGCAAAAAGTCTGTCAACATCAAGGGTCCATGAACAGAACAATAGAAATGTCCTAGAAACCTTCATCACAGTCATCATCGGGAGCTCAGAGTCAGTCCTTTTCCGAAAAAACTTGAGACTTCAAACGGCGAGTAAAACAAATGTGACAGTTGTCTAAAGACGTACGGATGCAGCTTCTGATGGTGGATCCAATTTACATGGTTTATTGTTGTACCTTGTACATAAACTGGAAGAACATGTGTTTGTCCTGTCAGATGGTTTACAGTGAAATGCAAAAATAAATTAATTGGAAATTGACGTTTCAGTTCTTGGGCCACAATCCGGTTAAATCA

Associated Phenotype:

Not determined