A5D6S4_DANRE

Ensembl ID:
ENSDARG00000021004
Description:
LOC565774 protein [Source:UniProtKB/TrEMBL;Acc:A5D6S4]
Human Orthologue:
C5
Human Description:
complement component 5 [Source:HGNC Symbol;Acc:1331]
Mouse Orthologue:
Hc
Mouse Description:
hemolytic complement Gene [Source:MGI Symbol;Acc:MGI:96031]

Alleles

There are 11 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa33747 Nonsense Mutation detected in F1 DNA During 2016
sa5335 Essential Splice Site Mutation detected in F1 DNA During 2016
sa40586 Nonsense Mutation detected in F1 DNA During 2016
sa17323 Nonsense Available for shipment Available now
sa20567 Nonsense Mutation detected in F1 DNA During 2016
sa20568 Essential Splice Site Available for shipment Available now
sa18825 Essential Splice Site Mutation detected in F1 DNA During 2016
sa5336 Essential Splice Site Mutation detected in F1 DNA During 2016
sa33748 Nonsense Mutation detected in F1 DNA During 2016
sa33749 Nonsense Mutation detected in F1 DNA During 2016
sa31483 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa33747
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 2016.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540 Nonsense 200 1050 6 25
ENSDART00000097325 Nonsense 198 1702 6 43
Genomic Location:
Chromosome 5 (position 66665734)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTCACTGCATCTTTTATTCACAATCCAAACCCCACCAGTTATGGAATCT[G/A]GAAAATTGTGGCCACATATGCTGACAATTTTGAAACGACTGCTACTGCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5335
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 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540 Essential Splice Site 224 1050 6 25
ENSDART00000097325 Essential Splice Site 222 1702 6 43
Genomic Location:
Chromosome 5 (position 66665807)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACAATTTTGAAACGACTGCTACTGCTGAGTTTGAGGTCAAAGAATATGG[T/C]AAGGCCGCCATTTATGTTTCAACTGGCTGTGCAGACCTTTARAGTTTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40586
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 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540 Nonsense 272 1050 8 25
ENSDART00000097325 Nonsense 270 1702 8 43
Genomic Location:
Chromosome 5 (position 66668064)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTCCAGGGAATGCCAGTTAAATCAGCGAACATTCTGTTGAAGTTTGGATA[C/A]AGTACTCCAGAAGAAACTGTCATAATACCATCAACATATAGATCATACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17323
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540 Nonsense 509 1050 13 25
ENSDART00000097325 Nonsense 507 1702 13 43
Genomic Location:
Chromosome 5 (position 66676688)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATTTCCWCTGGATTACTCTTCTCCCCCCCCCGCCCCCCAGATCATCTCC[A/T]AAGGAAAAGTAGTRAAATACRACACAGTCAAGCGTGTCAGTGAAAAGAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20567
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 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540 Nonsense 566 1050 13 25
ENSDART00000097325 Nonsense 564 1702 13 43
Genomic Location:
Chromosome 5 (position 66676859)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGGGGAGGAGAAAGCTGAGCTGGTGGCAGACTCTACATGGATCGATGTC[A/T]AGGCTAAATGTGTGAAAAACTTAAATGTAATGTCTTTTTCTCTCTCCCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20568
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540 Essential Splice Site 768 1050 18 25
ENSDART00000097325 Essential Splice Site 764 1702 19 43
Genomic Location:
Chromosome 5 (position 66683664)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAAGGATCTTCGTAAAGAGAATGCAGAAAATATCATTCTAAGCCGGGCAG[G/A]TATGGATGTTTCTCACATGGCATAATATTGACTTGGATTATTAATGTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18825
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 2016.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540 Essential Splice Site 870 1050 21 25
ENSDART00000097325 Essential Splice Site 866 1702 22 43
ENSDART00000002540 Essential Splice Site 870 1050 21 25
ENSDART00000097325 Essential Splice Site 866 1702 22 43
Genomic Location:
Chromosome 5 (position 66689249)
KASP Assay ID:
2259-6745.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GATTCTGCTCAAGGGTTCAGTCTACAATCAGCGCTCTTCAGGCATTAAGG[T/G]GAGAGCTTCACTTTTTATTCAGGGGGATATGTTTAAAAAAATTATATATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5336
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 2016.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540 Essential Splice Site 870 1050 21 25
ENSDART00000097325 Essential Splice Site 866 1702 22 43
ENSDART00000002540 Essential Splice Site 870 1050 21 25
ENSDART00000097325 Essential Splice Site 866 1702 22 43
Genomic Location:
Chromosome 5 (position 66689249)
KASP Assay ID:
2259-6745.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GATTCTGCTCAAGGGTTCAGTCTACAATCAGCGCTCTTCAGGCATTAAGG[T/G]GAGAGCTTCACTTTTTATTCAGGGGGATATGTTTAAAAAAATTATATATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33748
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 2016.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540   None 1050 None 25
ENSDART00000097325 Nonsense 1284 1702 31 43
Genomic Location:
Chromosome 5 (position 66704332)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACAACAGTTTACGTCCTGCTTAACACTTTAACCAGAGGTGAAACCGAATA[T/G]GCAAAACCCATCTTGAACTGGTTGACACAAGATCAGAGATATGGAGGAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33749
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 2016.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540   None 1050 None 25
ENSDART00000097325 Nonsense 1291 1702 31 43
Genomic Location:
Chromosome 5 (position 66704353)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACACTTTAACCAGAGGTGAAACCGAATATGCAAAACCCATCTTGAACTG[G/A]TTGACACAAGATCAGAGATATGGAGGAGGCGTCTATTCAACACAGGTATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31483
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 2016.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002540   None 1050 None 25
ENSDART00000097325 Nonsense 1696 1702 43 43
Genomic Location:
Chromosome 5 (position 66712780)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAACTGCAAACAATATGTCAAAGTTTTGGAAGGATTTGAATTTGAATACT[T/G]ATTAAATGGCTGTGATTTGATGTCATCTCGATAGGACTGGTACTTCATGT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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