ZMP

bbs1

Ensembl ID:

ENSDARG00000075169

ZFIN ID:

ZDB-GENE-060126-1

Description:

Bardet-Biedl syndrome 1 protein [Source:RefSeq peptide;Acc:NP_001091721]

Human Orthologue:

BBS1

Human Description:

Bardet-Biedl syndrome 1 [Source:HGNC Symbol;Acc:966]

Mouse Orthologue:

Bbs1

Mouse Description:

Bardet-Biedl syndrome 1 (human) Gene [Source:MGI Symbol;Acc:MGI:1277215]

Alleles

There are 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa16994	Essential Splice Site	Available for shipment	Available now
sa13530	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa16994

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
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Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000113061	Essential Splice Site	365	588	11	17
ENSDART00000113061	Essential Splice Site	365	588	11	17

Genomic Location (Zv9):

Chromosome 21 (position 26866534)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	27435445
GRCz11	21	27472140

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGTACACATGTAYAGAGACAAAAACCTTATYGGCACTATYAAGACTCCGG[T/A]AAGAACTGTCYTTGAYACATTTGGGTTTGGGTTGTGATRTGGTRAAAGCT

Long Flanking Sequence:

GCTGAAACGATATATTGTGCAGCCCTACTCCAGTGCCACTAATAAGAAGTGTTTCTGAATTACTGTATGTAAAAAGGCCAAATAAACAGATAAGCAACATGCACATGTATATGCTTTCTTGTCTTTAAGGGATTCCCCAAAGCCCAAGTACTGCATTGAGCTGTCCTCTCACCCAGTGGGACTGGTTAGAATGGGAAAGAATGTGGTTGTAGGATGTACTCATGAGACACTGCATGGTTACACTCAAAAGGTATGATAAACAAATCCATATTTTTCACCCTGGAAGTAATGCCTGTGGGGTTGTCTCTTATATGAATCTCTTATATGAATTGTCGTCCAGGGGAAAAAGCTGTGGACAGCTTATTTGCCAGCCCCTGTTACCACCATGGCACTGATGGATCTCCCCACACGAGGATTCCAGGCTGTGCTGGTCGGTCTGGCCAACTGTGAAGTACACATGTACAGAGACAAAAACCTTATCGGCACTATCAAGACTCCGG[T/A]AAGAACTGTCTTTGATACATTTGGGTTTGGGTTGTGATATGGTGAAAGCTATTTATGGAGTAGGTGTAGGGATTTTTTGCCAATTCCATGCGTGTTCAATAAAGAGGTCAGGAAAGGGTTTTTTCAATGCCAAAAATATTAGTAATATATTAGATACAAATTAATGATTCGATAAACAGAGCTCTGAGTCACATTACACCAACACAATAAAAGAATTACATTCAGAAGTTTTGCAACAACTCTGCATTTCCCTGACTCCAGTATTTATACACAACTGGTATTAAAAGGCAAAGTTTTGGTGGAATTCATCACTTGTCAATCATCCTGTCAGTTCATCACTTGTCAATCATCCCACACCCAGGCATACTTCCCCTTTATGTCAAGTTTTCTGTGCACATAAGCTGACATTATTATCAGATAAAGTATGCTCTGCAACATTCTGTCTTCACACCTTTTTCATTAAGTTATTTTCATACATCGAGGTCACAGGAAACTTCTAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa13530

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000113061	Nonsense	550	588	16	17

Genomic Location (Zv9):

Chromosome 21 (position 26871327)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	27440238
GRCz11	21	27476933

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CCTGCTGGTTCCAGGGCTAAATTACCCTATTGACACTTTTGTGGAGTGCT[T/A]RAGCGACAAAGGCGTCTCKGACATTATCAAAGTGAGACNNTTTTTTTNTCT

Long Flanking Sequence:

GCACCGGGCATTTCAGATGGACCTGAGCAGGCTGCGTTTAGCTGCAGCACGGGCCTATGTCAAAGCCCTGGAGTCCAGCCTCACACCAATGTCCGCCAGCCTGACTGAGCCACTCAAGATGAACGCTGTGGTGAGTTGAGCAATTCAGAACAAGATGACACCGGATGAGTGATACTGATCTCCACTTCTGCTTTCCATTTCTGCAAAGGTTCAAGGGCTGGGTCCATCTTTCAAGCTCACTCTGAATATCCAGAACACTGCTGCGTCCCGTCCTGTTATGAACCTAGCCATCAGTTTTCTGTATGATGAAAGTTTGTACAGCATGAGAACGGCTTTCTTTAAGGTGACCTCACCCTAAAACTTTCACAGTGATATGAGCAGATGTTTTTAATGTCTAGTTATTGAAGTGTTTTGCTGGTAATCATGAGCTGTTGTGTGTTTGTAGATCCCCCTGCTGGTTCCAGGGCTAAATTACCCTATTGACACTTTTGTGGAGTGCT[T/A]GAGCGACAAAGGCGTCTCGGACATTATCAAAGTGAGACTTTTTTTTTTCTTTCTTCAGAACATTGATGCTGGGTTTGTATCGTCTGAATGGATCGTAAGAGATTCGCATTATAGAAATTAAAAATATTTTTACTATGAGTGTTTACGTCTTAAACCTTGTCATGTACCTTCTATAAGGCATACATATCAACTACATTAACACTGATCACAATATATCACAAAAAGTAGTGATGTTGAAATGAAGCTTTCTTAACTGACCAACTCATTCATGTAGTAATACAACAGTAGTAATATAAAAAAAAATACTCAATAACTGTAGTTTTTTTACATATAAGGTATGTTACATTACAGCACTGATGATTGTAGTAAAAAGCAAGGTATTTAAAAGTATTAATGTTTATCGTATTCCAACCTGTCCTACCCTCTTGTTCTGAGCGGGGATCAAACTGGTGATTCCTGCATGGGAGGCGAATGCTCCAAGAAGGCTATGGGAGTGAGAC

Associated Phenotype:

Not determined