si:busm1-228j01.6

Ensembl ID:
ENSDARG00000041705
ZFIN ID:
ZDB-GENE-030616-396
Description:
hypothetical protein LOC777705 [Source:RefSeq peptide;Acc:NP_001071221]
Human Orthologues:
HLA-DOB, HLA-DPB1, HLA-DPB2, HLA-DQB1, HLA-DQB2, HLA-DRB1, HLA-DRB5
Human Descriptions:
major histocompatibility complex, class II, DO beta [Source:HGNC Symbol;Acc:4937]
major histocompatibility complex, class II, DP beta 1 [Source:HGNC Symbol;Acc:4940]
major histocompatibility complex, class II, DP beta 2 (pseudogene) [Source:HGNC Symbol;Acc:4941]
major histocompatibility complex, class II, DQ beta 1 [Source:HGNC Symbol;Acc:4944]
major histocompatibility complex, class II, DQ beta 2 [Source:HGNC Symbol;Acc:4945]
major histocompatibility complex, class II, DR beta 1 [Source:HGNC Symbol;Acc:4948]
major histocompatibility complex, class II, DR beta 5 [Source:HGNC Symbol;Acc:4953]
Mouse Orthologues:
H2-Ab1, H2-Eb1, H2-Eb2, H2-Ob
Mouse Descriptions:
histocompatibility 2, class II antigen A, beta 1 Gene [Source:MGI Symbol;Acc:MGI:103070]
histocompatibility 2, class II antigen E beta Gene [Source:MGI Symbol;Acc:MGI:95901]
histocompatibility 2, class II antigen E beta2 Gene [Source:MGI Symbol;Acc:MGI:95902]
histocompatibility 2, O region beta locus Gene [Source:MGI Symbol;Acc:MGI:95925]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa34469 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa34469
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 2017.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098138 Essential Splice Site 205 263 3 5
Genomic Location (Zv9):
Chromosome 8 (position 45760798)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 44382759
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTGTGGTGGATCACGCCAGCTCCCTTAAACCCATGATCTATTACTGGGG[T/C]AAGAACAGAATTATGGTGAATTTAATGTGTCAAGAATCAGCCTAGACATA
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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