abcc9

Ensembl ID:
ENSDARG00000015985
ZFIN ID:
ZDB-GENE-050517-23
Description:
ATP-binding cassette sub-family C member 9 [Source:RefSeq peptide;Acc:NP_001025325]
Human Orthologue:
ABCC9
Human Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [Source:HGNC Symbol;Acc:60]
Mouse Orthologue:
Abcc9
Mouse Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 9 Gene [Source:MGI Symbol;Acc:MGI:1352630]

Alleles

There are 6 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa26260 Nonsense Mutation detected in F1 DNA During 2015
sa8868 Nonsense Mutation detected in F1 DNA During 2015
sa8414 Nonsense Mutation detected in F1 DNA During 2015
sa18175 Essential Splice Site Available for shipment Available now
sa17129 Nonsense Available for shipment Available now
sa5254 Essential Splice Site Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
sa26260
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 2015.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013990 Nonsense 143 1558 4 37
ENSDART00000079987 Nonsense 55 1409 2 33
Genomic Location:
Chromosome 4 (position 13730723)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TATTCAAACCTAATCAACCTAACCTCTTTCACAGCCTTATTTATTTACTG[G/A]ATTCTGGCTTTCATCACAAAGATGATAAAGTTATGGAAGTTTGCCGAGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8868
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 2015.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013990 Nonsense 576 1558 12 37
ENSDART00000079987 Nonsense 488 1409 10 33
ENSDART00000013990 Nonsense 576 1558 12 37
ENSDART00000079987 Nonsense 488 1409 10 33
Genomic Location:
Chromosome 4 (position 13741511)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGACCTTCGTCACACATGCCTACATTGAGGAGGACAGGCTCAGTCCTGCC[A/T]AGGCATTTGCCTCTTTGGCKCTATTCCACATYCTGGTCACTCCACTCTTY
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8414
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 2015.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013990 Nonsense 576 1558 12 37
ENSDART00000079987 Nonsense 488 1409 10 33
ENSDART00000013990 Nonsense 576 1558 12 37
ENSDART00000079987 Nonsense 488 1409 10 33
Genomic Location:
Chromosome 4 (position 13741511)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGACCTTCGTCACACATGCCTACATTGAGGAGGACAGGCTCAGTCCTGCC[A/T]AGGCATTTGCCTCTTTGGCKCTATTCCACATYCTGGTCACTCCACTCTTY
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18175
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013990 Essential Splice Site 645 1558 13 37
ENSDART00000079987 Essential Splice Site 557 1409 11 33
Genomic Location:
Chromosome 4 (position 13741793)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATATGTGYATGTCTCTTGAAGTCGGCAAGAAATACAAATACCAAGGCGAT[G/T]TGAGTAGGYACACACAACCTTTCAACACAATTTCAGATAGTTTGTGTCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17129
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013990 Nonsense 800 1558 18 37
ENSDART00000079987 Nonsense 712 1409 16 33
Genomic Location:
Chromosome 4 (position 13756579)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCAACCAGATATCGACCTCCTTCCTTTTGGAGACCAGACTGAAATCGGA[G/T]AGCGGGTAAGACTGTCTCTGGGCTTGAAACCAGCTCTCTGACCTCAGCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5254
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 2015.
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013990   None 1558 None 37
ENSDART00000079987 Essential Splice Site 1365 1409 33 33
Genomic Location:
Chromosome 4 (position 13779026)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTCAYCCRCTTAAGCACTGTTTGACCATACAGAGATATGTATTTTCTGC[A/T]GCATCGTGTGCACACAATCCTGACGGCGGATCTAGTGATCGTGATGAAGA
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/.)

OMIM

More OMIM information for ABCC9

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