fam135a

Ensembl ID:
ENSDARG00000059843
ZFIN ID:
ZDB-GENE-080130-1
Description:
hypothetical protein LOC566435 [Source:RefSeq peptide;Acc:NP_001139066]
Human Orthologue:
FAM135A
Human Description:
family with sequence similarity 135, member A [Source:HGNC Symbol;Acc:21084]
Mouse Orthologue:
Fam135a
Mouse Description:
family with sequence similarity 135, member A Gene [Source:MGI Symbol;Acc:MGI:1915437]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa14063 Essential Splice Site Available for shipment Available now
sa11265 Essential Splice Site Available for shipment Available now
sa16461 Essential Splice Site Available for shipment Available now
sa4525 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa14063
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083641 Essential Splice Site 181 1338 5 20
ENSDART00000131434 Essential Splice Site 181 1338 7 22
ENSDART00000147971 None None 160 None 5
Genomic Location:
Chromosome 13 (position 39762036)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGCCACAATCCATGCTTCACTGGTGGCTCTGCATCAGCCTCTAATAAGG[T/G]CAGTGGTGCACTGAGAACTGGACCGACAGATTGTACTAGTCATTTTGAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11265
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083641 Essential Splice Site 181 1338 5 20
ENSDART00000131434 Essential Splice Site 181 1338 7 22
ENSDART00000147971 None None 160 None 5
Genomic Location:
Chromosome 13 (position 39762036)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGCCACAATCCATGCTTCACTGGTGGCTCTGCATCAGCCTCTAATAAGG[T/G]CAGTGGTGCACTGAGAACTGGACCGACAGATTGTACTAGTCATTTTGAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16461
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083641 Essential Splice Site 301 1338 8 20
ENSDART00000131434 Essential Splice Site 301 1338 10 22
ENSDART00000147971 None None 160 None 5
Genomic Location:
Chromosome 13 (position 39768393)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CGAGTTCTCAGAAGACCTTACCCTCCAGGCCAAAGGCACGTCTAYATAGG[T/C]AYGTCCYTCCAAAACCGACCCTAAGCTCCACACGCCTCTTGCCTTTCATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4525
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083641 Essential Splice Site 1112 1338 15 20
ENSDART00000131434 Essential Splice Site 1112 1338 17 22
ENSDART00000147971 None None 160 None 5
Genomic Location:
Chromosome 13 (position 39780937)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGGGTTGCCTGGAGCTAGGATAGATTTTCTGATGTCTGAGCGAAATCAGG[T/C]AAAGAGCAAAACAGTCCGATTAGATGGGCAGTTTATTGATTCAATAAATG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/s38oye2l