ZMP
oca2
Ensembl ID:
ZFIN ID:
Human Orthologue:
OCA2
Human Description:
oculocutaneous albinism II [Source:HGNC Symbol;Acc:8101]
Mouse Orthologue:
Oca2
Mouse Description:
oculocutaneous albinism II Gene [Source:MGI Symbol;Acc:MGI:97454]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11052 | Nonsense | Available for shipment | Available now |
sa20754 | Essential Splice Site | Available for shipment | Available now |
sa33907 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11052
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 |
---|---|---|---|---|---|
ENSDART00000087311 | Nonsense | 185 | 807 | 4 | 22 |
Genomic Location (Zv9):
Chromosome 6 (position 37835451)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 37907051 |
GRCz11 | 6 | 37904587 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCCTAGGGATGACAAGACTCATCACCATCTTCGTTATTGTYGTTCTGTG[T/A]TCAGTAAGTTCTCCATWAATCAGACCTAATCAACAAAGTGCTTTAGCGTG
Long Flanking Sequence:
AACTTAAAGATGTTAATAAAAGTCACTTTTTTCTAACATTTTCAAGGTTAAAAGTAAAGAGAGAAATAAAGAGCAAGGTCCCATAATGCAATTCAAAAGCATAAATATATAAAACATGAACCACAAAATGTAAGACATTTCTAATTTATGTATATTATTTATCTGTCTTGTTGTGACTTAAAAACCCTTGCTGTCTACCATTTGATTATAATACAGTGTTTTTTGATTGCTTTCACTGCTTGTCCTTACTAAACCCTGACAATAGTTTTAATGCCAAAAGAGGGTTTGCCCTGGCGCAAGCTGTCATCAAATCTGGCCTCAAAAACCGAGAGCTATAGCTTCATAACTCACAATCAACTCTAAAAGCAACTGTAACTTTTTGGCACATGGCTTTCTTTCTATTGCAAAGTAGATATCACAAAAAGTGTCTGAATTTGCTTTTACAGATATTGCCTAGGGATGACAAGACTCATCACCATCTTCGTTATTGTCGTTCTGTG[T/A]TCAGTAAGTTCTCCATAAATCAGACCTAATCAACAAAGTGCTTTAGCGTGCATTCTATTGTTTTCAGTCATCTGCCTAAGTGACACTCTAAAATAACTCTATTTATCTGAATCATCAGCTGTTTTTCAGCATGTATCCCGACCGGGAGAGCCCCTGGAGGATGCTGGCGGTCTCATCCACCGAGAGCTTCTGTATCCTCCCCATTTGTGTGTCTTAGAGAGTCTGCATTGTTTCTGTTTGCATTGGCTGGATGAATAAGAGTCATTAATGCACAAGTCAAATAGTATGCTGCCACTGTCTAACGCCTCAGACCCTGCGGGGATTTTCTGTTTGGTTGGGAGATTGCACTGAAGGGCTGCACTAATTCATTTCCGTTTCTGTGACAATCTCGCCATCTGTTATTTACAGCGGCTTGTGTCATGGAAACAGTCTTGCTTATGACTCCGTGCATAACAACAGATCTGCCTGATACTTTCGGCAGACTGTGGGTCCTGTAGAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20754
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000087311 | Essential Splice Site | 186 | 807 | 4 | 22 |
Genomic Location (Zv9):
Chromosome 6 (position 37835456)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 37907056 |
GRCz11 | 6 | 37904592 |
KASP Assay ID:
2259-7809.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGGATGACAAGACTCATCACCATCTTCGTTATTGTCGTTCTGTGTTCAG[T/G]AAGTTCTCCATAAATCAGACCTAATCAACAAAGTGCTTTAGCGTGCATTC
Long Flanking Sequence:
AAAGATGTTAATAAAAGTCACTTTTTTCTAACATTTTCAAGGTTAAAAGTAAAGAGAGAAATAAAGAGCAAGGTCCCATAATGCAATTCAAAAGCATAAATATATAAAACATGAACCACAAAATGTAAGACATTTCTAATTTATGTATATTATTTATCTGTCTTGTTGTGACTTAAAAACCCTTGCTGTCTACCATTTGATTATAATACAGTGTTTTTTGATTGCTTTCACTGCTTGTCCTTACTAAACCCTGACAATAGTTTTAATGCCAAAAGAGGGTTTGCCCTGGCGCAAGCTGTCATCAAATCTGGCCTCAAAAACCGAGAGCTATAGCTTCATAACTCACAATCAACTCTAAAAGCAACTGTAACTTTTTGGCACATGGCTTTCTTTCTATTGCAAAGTAGATATCACAAAAAGTGTCTGAATTTGCTTTTACAGATATTGCCTAGGGATGACAAGACTCATCACCATCTTCGTTATTGTCGTTCTGTGTTCAG[T/G]AAGTTCTCCATAAATCAGACCTAATCAACAAAGTGCTTTAGCGTGCATTCTATTGTTTTCAGTCATCTGCCTAAGTGACACTCTAAAATAACTCTATTTATCTGAATCATCAGCTGTTTTTCAGCATGTATCCCGACCGGGAGAGCCCCTGGAGGATGCTGGCGGTCTCATCCACCGAGAGCTTCTGTATCCTCCCCATTTGTGTGTCTTAGAGAGTCTGCATTGTTTCTGTTTGCATTGGCTGGATGAATAAGAGTCATTAATGCACAAGTCAAATAGTATGCTGCCACTGTCTAACGCCTCAGACCCTGCGGGGATTTTCTGTTTGGTTGGGAGATTGCACTGAAGGGCTGCACTAATTCATTTCCGTTTCTGTGACAATCTCGCCATCTGTTATTTACAGCGGCTTGTGTCATGGAAACAGTCTTGCTTATGACTCCGTGCATAACAACAGATCTGCCTGATACTTTCGGCAGACTGTGGGTCCTGTAGAGATGAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33907
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 |
---|---|---|---|---|---|
ENSDART00000087311 | Essential Splice Site | 690 | 807 | 19 | 22 |
Genomic Location (Zv9):
Chromosome 6 (position 37924433)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 37996033 |
GRCz11 | 6 | 37993569 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTTGTTTTTTGGTCTATGGCTTGATTTTTCTCTGTGGTGTGTTTTTAA[G/A]GCTCTCGCTCAGCTGCAGCTCATCGACTACATTGGGGAGCAGACTGCAGT
Long Flanking Sequence:
TTGAATATTTAAAGTGCATTGTCATGAAAGATAAAAAGTTTAACTTCTTATTATAAAATATTCTAATGTTATGTTTATTTTTTTATCTATCCTATTTATAAGTGAAGAAAGAGAAAGGGAGCGACTTAGAGATTAGATTGGAAGTCTAAGTAAGAGGAAAGTGAGCTCGTCAGCAGCAGAAATGCTGGGTTTGCTGTTTGTGTAGGTTTAATCCTTTGTTTTGTTCGCTGGACAGTATTCACACAGGGAAGCCCACCCTTTGGGCCCAGTGGGGAGCTTAACGCTGCTCCAAGATAAACTGTTTGCCCTCTATAGCAGAGCCAGCATTCACAATCACTCAAAGCAGGGTTCAGCGCAAGCACCCAGATATAAAAAATATATATACTTCATGAATTTTGATATTTAAAAGTTTAAAGGATTGAAAATCAGAGCTGTCAGGGTAAATGTCTGTTTTTGTTTTTTGGTCTATGGCTTGATTTTTCTCTGTGGTGTGTTTTTAA[G/A]GCTCTCGCTCAGCTGCAGCTCATCGACTACATTGGGGAGCAGACTGCAGTGTTGATAAAAGTGAGTATTGACTTTGTACCGACTTTAAGGGGAAGTTCACTATTCATTTACTGTTGTTTTGAGTCACTGCAGAAGGTAAACAAATCAGCACAAAACATCTAAATCATGCCATTGATTATAATGCAAACACACAATGGTAATGTGAAGTGCAATGTTACGATGTAGCATTAGCTGTGTTTCTGTTTATATAATAATCACATGGTTGGTTGCATGTTTGCAGTATTAAAAATATTTGGTTACACTGTTTTTGTGATTTTCAATAAACATTTTATTAATAAAAAAAAATCAAAAAGCTCAATTAAGCTACTCACTTGCTGCTAATTAACAGTTAGTAAGATAAGCTGCGGTGCAAAGTTCAAGCATGGTGAACTCTGATCAGCGAAATTGCATCGCATGATTGCGTGAGACCAATAGAGGATCAAAACATATCCTCTCTGTAC
Associated Phenotype:
Not determined