ZMP

bbs2

Ensembl ID:

ENSDARG00000041621

ZFIN ID:

ZDB-GENE-020801-1

Description:

Bardet-Biedl syndrome 2 protein homolog [Source:UniProtKB/Swiss-Prot;Acc:Q98SP7]

Human Orthologue:

BBS2

Human Description:

Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:967]

Mouse Orthologue:

Bbs2

Mouse Description:

Bardet-Biedl syndrome 2 (human) Gene [Source:MGI Symbol;Acc:MGI:2135267]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa2952	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa2952

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061000	Nonsense	353	715	10	18
ENSDART00000061000	Nonsense	353	715	10	18

Genomic Location (Zv9):

Chromosome 18 (position 17183870)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	17535636
GRCz11	18	17524702

KASP Assay ID:

554-2602.1 (used for ordering genotyping assays)

KASP Sequence:

ACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTYGAGTTR[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATSCAT

Long Flanking Sequence:

GTCAAAAAATCATGCCATGAGTATCCACGCTTTTGACCTTAACGCTGATGGTGTTGTTGAGCTCATAACTGGATGGTCCAATGGAAAGGTCAGTCTTATAGACACATTTGCCTTGCAATATATATACTATATTAGTAAAATCAGATGACTTCCTGTGATTCCATATTTAGATTGACGCTCGTAGTGATCGTACTGGTGAGGTGATCTTCAAGGATAACTTCTCATCCTCTGTGGCCGGGGTTGTTGAGGGAGATTATCGGATGGACGGACAGATCCAGCTCATATGTACGTCTGTGGAGGGAGAAGGTAAGACGTTGGACCGTTATTTTAAATGCTTGACTGTTACCTTTGTGAATTGGCTCAAATATATGTGCCATTCTACAGTACGTGGCTACCTGCCTGCCAGTAAGGAGATGAAGGGAAACCTTATGGACTCAAGCATAGAACAAGACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTTGAGTTA[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATCCATATTGATGTTGCATATGCAGTTGTGGCTAGTGGTATTTGTTTGACATAGGCTCTTCCTGGGCTTTCGGAGGGAGAATCTAAGATGGGTGTAATTCCAGCCAACACGCAGCTCCAGACGGCCCTCTCTGTAAGAAGAGCCTCGGAGAGCCAGAAAGCACACATAGAGCTCAACATCTCCACTCCAAATGGTACAGTTTAAGCTGTTCTCTCTCTGTGGTTGGTTATATAATCCACTTGTTCTAAGCTAGCCGCACACTTGAACTGATTTCTTTAGTCTTTGCCATGATGACAGTACATAATATTTTACTCATTATTTTACAAGATTCTTGTATTCAGCTTAAAGTGCAATTTAAAGGCTTAACTTGGTTAACTGGGTTAACTAGGCCATTAAGGTAAATTAGGCAAGACATTGGAGTGGTTTGTTCTGTAGCCAATTGGAAAAACTTTTTTG

Associated Phenotype:

Normal

Stage	Entity	Quality	Tag
Larval:Day 5 ZFS:0000037	whole organism ZFA:0001094	quality PATO:0000001	normal PATO:0000461