A3KP94_DANRE

Ensembl ID:
ENSDARG00000070605
Description:
LOC557782 protein [Source:UniProtKB/TrEMBL;Acc:A3KP94]
Human Orthologue:
B4GALNT2
Human Description:
beta-1,4-N-acetyl-galactosaminyl transferase 2 [Source:HGNC Symbol;Acc:24136]
Mouse Orthologue:
B4galnt2
Mouse Description:
beta-1,4-N-acetyl-galactosaminyl transferase 2 Gene [Source:MGI Symbol;Acc:MGI:1342058]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa12224 Nonsense Available for shipment Available now
sa12308 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12224
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103858 Nonsense 210 491 7 12
ENSDART00000103858 Nonsense 210 491 7 12
Genomic Location:
Chromosome 3 (position 23342063)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACACAACTYAATGATCTGYTGTCCARAGTGAGCTACACCAGCACCGTCTA[C/A]CACATCARAACATCAGACCTGGGTGAGAACAGCAGACATGCTYACTTWAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12308
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103858 Nonsense 210 491 7 12
ENSDART00000103858 Nonsense 210 491 7 12
Genomic Location:
Chromosome 3 (position 23342063)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACACAACTYAATGATCTGYTGTCCARAGTGAGCTACACCAGCACCGTCTA[C/A]CACATCARAACATCAGACCTGGGTGAGAACAGCAGACATGCTYACTTWAT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/3sae6if0