abcb6

Ensembl ID:
ENSDARG00000063297
ZFIN ID:
ZDB-GENE-050517-9
Description:
ATP-binding cassette sub-family B member 6, mitochondrial [Source:RefSeq peptide;Acc:NP_001139165]
Human Orthologue:
ABCB6
Human Description:
ATP-binding cassette, sub-family B (MDR/TAP), member 6 [Source:HGNC Symbol;Acc:47]
Mouse Orthologue:
Abcb6
Mouse Description:
ATP-binding cassette, sub-family B (MDR/TAP), member 6 Gene [Source:MGI Symbol;Acc:MGI:1921354]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa19409 Nonsense Mutation detected in F1 DNA During 2014
sa19410 Essential Splice Site Mutation detected in F1 DNA During 2014
sa18683 Nonsense Mutation detected in F1 DNA During 2014
sa7893 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa19409
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092324 Nonsense 755 851 18 20
Genomic Location:
Chromosome 1 (position 5020630)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTCCATCCTCTACCTGCAGGCCACATCTGCTCTAGACACTCAGACTGAG[C/T]GAAACATTCAGGCCTCGCTGGCTAAAGTCTGCGCCAACAGAACCACAGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19410
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092324 Essential Splice Site 776 851 18 20
Genomic Location:
Chromosome 1 (position 5020695)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCGCTGGCTAAAGTCTGCGCCAACAGAACCACAGTTGTTGTGGCACACAG[G/A]TAAACAACAAATGAATTAAGTCATGCTTTCACTAAAACCAGCTTCATTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18683
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092324 Nonsense 815 851 20 20
ENSDART00000092324 Nonsense 815 851 20 20
Genomic Location:
Chromosome 1 (position 5021955)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTAGGCATGAAGAGCTGCTGGCAAAGGGCGGCCTTTACTCTGACATGTGG[C/T]AGAAACAGCAGCAGGCGCAGGATTCAGACTCAGCTTCTGACTCGGAGACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7893
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092324 Nonsense 815 851 20 20
ENSDART00000092324 Nonsense 815 851 20 20
Genomic Location:
Chromosome 1 (position 5021955)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTAGGCATGAAGAGCTGCTGGCAAAGGGCGGCCTTTACTCTGACATGTGG[C/T]AGAAACAGCAGCAGGCGCAGGATTCAGACTCAGCTTCTGACTCGGAGACT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/9q9h41vy