ZMP

LOC565314

Ensembl ID:

ENSDARG00000042261

Human Orthologue:

CDAN1

Human Description:

congenital dyserythropoietic anemia, type I [Source:HGNC Symbol;Acc:1713]

Mouse Orthologue:

Cdan1

Mouse Description:

congenital dyserythropoietic anemia, type I (human) Gene [Source:MGI Symbol;Acc:MGI:1916218]

Alleles

There are 6 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa12748	Nonsense	Available for shipment	Available now
sa16437	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa12748

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061961	Nonsense	428	1288	6	28

Genomic Location (Zv9):

Chromosome 17 (position 38626008)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	38510905
GRCz11	17	38458490

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTAGATGTTCTGGAAAAAGCTTACYTAGGAAATGTCCACAACTGTGTGTA[T/A]TTTTCTGTGAGAGTGTTGGAGAAACARTTTGAGTAAGTCTGATTATAGTG

Long Flanking Sequence:

TTTAAAAAATGAATTATGCATTTGGTTATGGTTTTATATTATTTTTTCACATTGACGTTTTTATTATTTTTAATAACAATAACAGTTTTGCAATTTAGCAGTAATTTGTAGAATCTTGCAGGAAAGTAATAATTTGTCAATTATTTTTTAAATTTATTAATATATTCTTGTATATCTTTTCATAATTGTTTTTTTTTGATTATGTGATTTGCTCATCTAAAGGCAAACAGAAACTCCTTCCATGAAAAAGGCATTGCAGTTGTTATGCAAATAATAATAATAATAATAATAATTATTATTATTATTATCATTATTATTATTATTATTATTTAAAAATAGTTGAAATAAGATTGTTTTTGCAGGCATTTTCTTTTATTATTATTAAAAAATTAATCAGTCTCTGAATTATTGATGCTGATTAATTTTCTGTGTTTTTTCATTCATGTCTTTGTAGATGTTCTGGAAAAAGCTTACCTAGGAAATGTCCACAACTGTGTGTA[T/A]TTTTCTGTGAGAGTGTTGGAGAAACAGTTTGAGTAAGTCTGATTATAGTGTTATTACTGTGTTATTACACATCATTGTCAGAGTGCCTGATTATTTCTTTTCTATTTGTCAGGTTGGTGTCACACCTGGATAAATGCACATTACGGCTTCTGTCTGAAAATGAGAGAGTGGGGACTTTCTCCTCCTCCCTTAAAGACTGCTTGGCAGAAGCTCAAGACAACTGCACAGCTAAAGTAAGCATTCGTTTAAAAGCAACCAGTAAGTTCTGTTTTGAAAGCTCACGCTGAATAATGTTCTTAATTTGTTAGGTACCTCCTAGTCCGCCCTTATTTGTTCATTCAGTCCCGTTCCAGCCTGCCACAGACAACCGCTCTAATTTTAGCAGCGACAAGGCCTTTCACACCTTTAAAAAGCAGAGGTACATTTTTCAAAACATACATGAGTTACTTGGCAAATCAGTTGCTTAGATGTACATGGTTAATGTTGTGTTTTTTTTTTCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa16437

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061961	Essential Splice Site	1146	1288	24	28

Genomic Location (Zv9):

Chromosome 17 (position 38638710)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	38523607
GRCz11	17	38471192

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GATYGAGTCTGTATTGGACAGGGTKGGACAAACACTTGGATGCCGAAAAG[T/C]AATCAGACCCCCATACAGAACACTTGTTATCCACAYATCAGTGTTTTAAT

Long Flanking Sequence:

TCAGAAGAAGTTTATTAAGTTTATGTAGTATAACAGTGTGTTGGCTTTCTCAAGCCACCATAATAAAATGCTTGTTGCAGTACAAACATGCCTGAATTGGAAATATTTAAAACGATGTAATAAAAACAACAGATGAATGCAACAAAAAAACTGATTAAAATAGAATTTAAATAAAGAAATATGCAAGTGTAAAAATGGATAAAAAAGAAAAGAAGCTAATTCAAAAGAGTATTCATAGTTACTCATGCTAATATAGCACTGGCTATCAGTACACCTTTGACATTAACCAGTTGGCTGATTAATTAAAATTTCTGCCTTACTATTAATAATAGAAAATTAGTAACAAAAAATCAGCAAGTCTAATTTAATGGGATTTTCTCTGATGTTTCAGGACGTTCTGAGTGTTGCTGTAGGACCCAGATCTGATGATGAGGTTTTCACGGTTCGTCAGATTGAGTCTGTATTGGACAGGGTGGGACAAACACTTGGATGCCGAAAAG[T/C]AATCAGACCCCCATACAGAACACTTGTTATCCACACATCAGTGTTTTAATAGTTTTTCTTACTTTCTCCTCTTGTCCTGGTGTGTTTCTAGCGTCTCTCTCCGGTGGTCGAGCAGATGCTGTTGCGTTGTACTGTTCAGCTGGCCTGCAAACTTGGTGAGTGAAACTGAGAACAGTCCATAAAGTCAATTCTGATCATGATTAATATCCTCATGTGTGTATGTTTGTATCTGTTTTTACATGTGAAGTATCTGGAGAGCTGCCGCTGGTGTCCTCCGCCGAGGGGAACAAGAGACCTGATCTTCTGGAAAGGTTTCTGGTTCTGTGGTCTTGGACTCCCGCTCCACCTCTGCACCTTCTTCTCACTGAACCCACTTTGACTGCCATATTTACTGCTACCGATAGAGAGGTAAAAGCACTGTGCAGTTTTGCTAAGCTGTTGCATCCATATCCTCTTTGTAGTTAGTCAATATTAGGGCTGTGCAGTTAATCGAAGTCGAA

Associated Phenotype:

Not determined