Busch Lab

ZMP

oca2

Ensembl ID:
ENSDARG00000061303
ZFIN ID:
ZDB-GENE-070718-4
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
sa9009 Nonsense Mutation detected in F1 DNA Not yet available
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
sa33908 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9009
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087311 Nonsense 159 807 3 22
Genomic Location (Zv9):
Chromosome 6 (position 37831991)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37903584
GRCz11 6 37880731
GRCz11 6 37890738
GRCz11 6 37901127
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGGTCACCAGTCTCTCACWCATTACATCCCCGGAGAAGAGTGAAAATTA[C/A]TTCAAACTCTCTTTTCCCATCAGGTATGAAATACTGTTTAAAAGATTGTG
Long Flanking Sequence:
GATTATCATCTGCAAAGGTTTAAACTTGTCTGGATTGTGTTCTTTAGCAACACCTCTTGCAAAATGTCTACACCTTCAAACCATCCTGGTCAAATGATTATTTGATTACCTCTGAAATCCATCAAAAGTTGATAAGCTCAAAACATTTGAGAGCTAATTCAGACTTATATTTAGCTTTGTCCACTTATGGACAGATAATTGAAAATGCAGGTTATTACCAGTTTTGAATGGAGCCAATATAGTTTCAAACAGATTTCCAAGGTCAAGCTTGTTCATTTTTCCACTAAACAAATTGTGCTGCACCCAAACTCAGATCATTAGTTAGTGTCTAACTTGTGGTTTTTGTGCAGTATCACCTACATGACTCTGCATGAGCCCAGTCTGGGGTCTGGAGAGGAATCGTGGGAGGCGAGCTCTGCTGAACTGGAGAGAAGGTGCAGGCTGGGCAGTGAGGTCACCAGTCTCTCACACATTACATCCCCGGAGAAGAGTGAAAATTA[C/A]TTCAAACTCTCTTTTCCCATCAGGTATGAAATACTGTTTAAAAGATTGTGGTCAGTAAGTTATTTTTTTTTCTTAAGAAGTGAATACTTTTATTCAACATGGATGCATTACACTGGTCAAATTTGACAGTAAACTTGTTGCAATTACTTTCTATTTAAAAAAAACGATAGTCTTTGCAATTTCTGTTGATCAAAGAGACCTGAAACTTCTTTGATATTTAGTTCAATTCATGTTTATATCTATAGCACTTTTACAATGTAGATTGTGTCATAGTTCAGTTTAGTTCAGTTCAGTGTGGTTTAAATTTCCAAATACCAAATACTGAAGAGCAAATCCACCGATGCGCAGTTTCACAAGTCCCAAACCAAGCAAGCCAGTGGCGACAGTGGTGAGGAACAAAACTTCACCAATTAACAAAAGTGAAGAATATAAAACCTTGAGAGAAACCAGGCTCAGTCGTTTATACAGTTAAAGTCAAAATTATTAGCCCCCTTTTAATT
Associated Phenotype:
Not determined

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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
Availability:
Order Allele From ZIRC
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.
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
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

Mutation Details

Allele Name:
sa33908
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
ENSDART00000087311 Essential Splice Site 745 807 21 22
Genomic Location (Zv9):
Chromosome 6 (position 37940963)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 38012563
GRCz11 6 38010099
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGAGTTCTGAGTTCCTGTGCCTAATGGAATTATATATTTTTCCTCCAC[A/T]GATTCCAGTACTCATAAATCTCAGTCAAGATGCCGATGTCAACTTGCCAA
Long Flanking Sequence:
CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACTATCCATCCATCCATTCATCCTTACATTCCTTACATCCATCTATCCATCTGTCCATCCATCCATCCCTCGTCCGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAATTTAATTTAACTATTTTTCTATCATTTTATCTACAATCGTCTACAATGCAGTCTATCATTCAGCTGGTCAATCTATAGCTCTACCGTTATATTGTTTGATCATTCTATTCCTTTCTATATCATTATATATGTCTTTTTATTGTTCTATCCATCTATCTATTCTTTCATTGTTCTTATGTTCTATAATGCTATCTGTTGACAATAACATTCTGCTATTATTTGAGTTCTGAGTTCCTGTGCCTAATGGAATTATATATTTTTCCTCCAC[A/T]GATTCCAGTACTCATAAATCTCAGTCAAGATGCCGATGTCAACTTGCCAATCAAACCTCTCATATTTGCATTGGCTATGGGAGCATGCCTTGGAGGTCAGTCACATATTTTCTGTATTATAAACGTGTGTAAACATACAAACAAACCTGCCATTATCCAAATCTTGGCTTAAGTGGTTTGATGAACTGGATACTTTAGTACCATTGTAAACTTTCATGCAAATCACAACAAGCCACCACCTAACACTGTTTTATGCTAGTAACTCAGACCTTTGAATTATAAAACAGGTCTCTTTTAATAACATCATGTCACCATTAATAATCTGTAGTTTTTTTCAATGCCACTCACTTCTTCCTCACCCACACTGAAAGCATCACTGAGCACAAATAGATCACGCTACATTTAGGAATGTAGTGTGCTTACAAGGCCATCTGAAAATGCCTCATTGCTTGTTTGGCTCTGAGGACACGGTGAGAAAGATGTGGCAGTGCTGCTGCCTA
Associated Phenotype:
Not determined