ZMP
xpa
Ensembl ID:
ZFIN ID:
Description:
xeroderma pigmentosum, complementation group A [Source:RefSeq peptide;Acc:NP_956765]
Human Orthologue:
XPA
Human Description:
xeroderma pigmentosum, complementation group A [Source:HGNC Symbol;Acc:12814]
Mouse Orthologue:
Xpa
Mouse Description:
xeroderma pigmentosum, complementation group A Gene [Source:MGI Symbol;Acc:MGI:99135]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16787 | Essential Splice Site | Available for shipment | Available now |
sa38250 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa16787
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 |
---|---|---|---|---|---|
ENSDART00000055566 | Essential Splice Site | 59 | 549 | 2 | 9 |
The following transcripts of ENSDARG00000038114 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 11220514)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 11382790 |
GRCz11 | 1 | 12069590 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GATGCTCAGACAAGCCAGACTYGCCAGCAGAMCGTCCTCCGCYGTAGAAG[G/A]TCTGACTTTTGTTTAAAACCTRCACAAGACATGTACAAATTTAATTTAAT
Long Flanking Sequence:
TTTGAACATGGTTTAACAACAAAAAAACCATGTGCTTTTTTCTTTTTCCTATTGTTTGTTTTACAGTAACTATGGTTAATTTGCATAGAGTATTTTTGCTCACCAAATAAGTATTAAATTGATGACCAACTACATTTAATTTCACGCTTGACTGTATGTAAATTGTTAAAAGTGATGTAGTTTATGTGTAGATATTCACATTCAATAAGATATGTATTTACTTATTCATTTTGTTATTCCTTTGTCTTCAGACATTGTGTTTGAATGAACTTCTGCCTGATTATTATTGTGAGTGTAAACTGTTGTTGGTTATAGGCTGATCATGGAGATGCCAGAGGCCAGTCATTGTCAACACACATCGCCAGACTCTGCAAACTCTTCAAATGAGTCCAGCATGTCTTTAACACCACACATGCTGGCCAAAATTGAGCGAAACCGCCAACGGGCGCTGATGCTCAGACAAGCCAGACTCGCCAGCAGACCGTCCTCCGCTGTAGAAG[G/A]TCTGACTTTTGTTTAAAACCTGCACAAGACATGTACAAATTTAATTTAATTAATACTGTGTGATGAATGTAATATGTTTCAGGAGCTACTCACGCTAAAGTGGCAAAAACTATAGACTCTGGTGCTGGGTTTTTTATTGAAGAGGAGACAACAGAGGACGAGCAGCAGGAGAAGAGAGTCGTTCAACAACCAGGTTTTTGAAACTACCATACTTGCTTTATTTTATTGCACAAACTGAATAGCAGTAAGTTACTTTAGAAAGAGAAGCATTACAATATTGAGTTACTCCTTCAAAAAAGTAACTAGTTGTGTTACTTGGTTACTTTTTATGGAAAGTAATGCGTTACATTACTTTTGAGTTACTTTTGCGTTACTTTTCCTTATCTGGCTGAGGTTTGATCTCTTTCAGAGCTCGCAGGTGTTTTTTCACCTTTTTTTAAAGAGAAGCTCTGCATTTAACAACCACCAATATAACATACAGCTTCATTTTCCTTTAAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38250
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000055566 | Nonsense | 525 | 549 | 8 | 9 |
The following transcripts of ENSDARG00000038114 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 11198846)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 11404458 |
GRCz11 | 1 | 12091258 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGCAGCACAGCACCCAGCAGCACCACCAAACCGGTCATCAGCATCACAT[C/A]GCAGCAAGGTGCCCGTATCGTTGCTCCTCCCTCCTTTGATGGCACAACAA
Long Flanking Sequence:
GCCTGTCATAATGGAGTCTTGGTCCCCTGACAGCCCTACAGCTATGATTTATCATCACGCTGTGCCCGTGCCAAATGTACCTGTTGTTCAACCCCAGCTGCTCTGCCTCACGCCCCCTGCAGACGTCCCGCATGCTCACATCCAGCGCAAGCTGCTGCTTGACCCCACCACGGGTCAGTACTACTTAGTGGACACCCCTGTTCCGATGCAGCCCGCCGCCCAGAGGTTTTACCATCCTGAGAGTGGCCAGTACTTGGACATTCCTTTATCACTCACTCCAGTGCCAGTGTCGGTGTCACCGGTCGCCCTCGGTCCTGCAGCCTATCCCCCAACTTACTTGGTCTACCCTTCGACCTTTCTGCCTGCACCCCCGGCGCCGCAGTCACATTCATCCACCTGCTCCGAGGGCGAGGATGCAGTGGAGACGGGCAGCATGTATATGATCCCGCCGGGCAGCACAGCACCCAGCAGCACCACCAAACCGGTCATCAGCATCACAT[C/A]GCAGCAAGGTGCCCGTATCGTTGCTCCTCCCTCCTTTGATGGCACAACAATGAGCTTTGTGGTGGAGCATCGATAACGGAAGGTGAGTAAACACCGCACGGCTCTGTGTGTTTACATTGTAAGATAATAATTCTAAAACTCAAGTCAACAGTTGTTAAATAAATGTTTGTGAGATAAAGAAAGTTCTGCAAGGAACCATCAACAGAAGTAAAGAGCTTTAATTTTTTTTAGGAAATATTTTACAAATATAATTGTTTTAAAGATTATTTTCGGATGAGACGGTGGCTCAGTGGTTAGCACTGTCGCCTCACAGCAAGAAGGTCACTGGATTGAGTCCTGGATGGGTCAGTTGGCATTTCCGTGTGGAGTTTGCATGTTCTACCCTTATGTGTGTGGGTTTCCTTCGGTTGTTCGGTTTCCCCCGCTGTCCAAAGACATGTGCTTTAGTTGAATTGAATAAACTAAATTGGCCATAGCGTATGTGTGTAAATGATTGTGCA
Associated Phenotype:
Not determined