Busch Lab

ZMP

xpa

Ensembl ID:
ENSDARG00000038114
ZFIN ID:
ZDB-GENE-040426-1205
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
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