ZMP

LOC561790

Ensembl ID:

Human Orthologues:

HBA1, HBA2, HBQ1, HBZ

Human Descriptions:

hemoglobin, alpha 1 [Source:HGNC Symbol;Acc:4823]
hemoglobin, alpha 2 [Source:HGNC Symbol;Acc:4824]
hemoglobin, theta 1 [Source:HGNC Symbol;Acc:4833]
hemoglobin, zeta [Source:HGNC Symbol;Acc:4835]

Mouse Orthologues:

F830116E18Rik, Hba-a1, Hba-a2, Hba-x, Hbq1

Mouse Descriptions:

RIKEN cDNA F830116E18 gene Gene [Source:MGI Symbol;Acc:MGI:3613460]
hemoglobin X, alpha-like embryonic chain in Hba complex Gene [Source:MGI Symbol;Acc:MGI:96019]
hemoglobin alpha, adult chain 1 Gene [Source:MGI Symbol;Acc:MGI:96015]
hemoglobin alpha, adult chain 2 Gene [Source:MGI Symbol;Acc:MGI:96016]
hemoglobin, theta 1 Gene [Source:MGI Symbol;Acc:MGI:2685722]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa16420	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa16420

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000066383	Essential Splice Site	102	144	2	3

Genomic Location (Zv9):

Chromosome 12 (position 21705736)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	20231369
GRCz11	12	20353243

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CAGTGAATTGCACRCCTTTCAGCTGAGAGTCGACCCTGCTAACTTCAAGG[T/C]ATACRCTACAAACCACTTGTTGTTTATTGCTAATTGAGTCCAACAGTTGC

Long Flanking Sequence:

TTGGGATAACATGGATGGATTGTGTGGAAACCTGCATTTTTTTACTGTGTAGTGGCATGCAGAGCAACAGTTGGGAATTTTGTAACTACAGTTTAACTATGGACTCAATAACAATACATATAAGTAGCCTATTTGTTTGGTACAAAATGCAATGTCTTCACTTTTTTTGTAATTAAAATGAACATAATTGATTTTCAAATAATACAAATGCCACATTACAGATTTAAGTAAGCCTATAATCTCAAATGTAAACCTCAAAATATATTAATATTAATATTTTTTATTTTGCAGATTGCTTTTGGTGTACCCTCAGACCAAGACCTACTTCTCCCACTGGAACGATCTGGCCCCCGGCTCTCCCTCTGTGAAGAAGCAGGGAAAGAAGATCGTCGGTGGACTCGGTCTGGCTGTTGATAAAATCGACGACCTTTTCAACGGCCTGCTGAACCTCAGTGAATTGCACGCCTTTCAGCTGAGAGTCGACCCTGCTAACTTCAAGG[T/C]ATACACTACAAACCACTTGTTGTTTATTGCTAATTGAGTCCAACAGTTGCAGCTGTCGTACCTAAAATTGTGTGTTAATTTTGGCTTGCAGCTCCTGTCTCACTGTCTGCTGGTGGTGTTCGCCATGCTCTTCCCTGATGACTTCACCGCTGAGGTCCATCTGGCCATCGACAAGTTCCTGGCAAGAGTGGCTTTGGCTCTGTCTGACAAATATCGTTAACTCTTCTGTTTAACAGCATGAACGTGGTTTTGTCGATATGGTCAACAGCATGTCAATAAAAACAAACCTAAAACCACTTCACCCTGAGTGTTTGCGTGCTAATCTGTTTCACAGTGGGCCGATTATCATATTAATTCTATTAGAAATAAAAACATTTTTTAAATTACTTGACCAGATTAAAACTAGCCTCTGAAATAAGTCAAGGTTGATCTGGAGATCATTAAAATTATTAACATTTTCATTGGCTTATAATGTAGGTTAATAATAAACATTTCACACA

Associated Phenotype:

Not determined