ZMP

si:dkey-217m5.1

Ensembl ID:

ENSDARG00000002877

ZFIN ID:

ZDB-GENE-030131-9536

Description:

ralBP1-associated Eps domain-containing protein 1 [Source:RefSeq peptide;Acc:NP_001038521]

Human Orthologue:

REPS1

Human Description:

RALBP1 associated Eps domain containing 1 [Source:HGNC Symbol;Acc:15578]

Mouse Orthologue:

Reps1

Mouse Description:

RalBP1 associated Eps domain containing protein Gene [Source:MGI Symbol;Acc:MGI:1196373]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa23780	Essential Splice Site	Available for shipment	Available now
sa23781	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa23780

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

Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000019744	Essential Splice Site	93	791	2	20
ENSDART00000132132	Essential Splice Site	93	790	2	20

Genomic Location (Zv9):

Chromosome 20 (position 39253774)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	20	39326186
GRCz11	20	39229065

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCACTGGCCCAGTCTGGACTGCCCCTGCGCCTCGAGAGCCTGAACACTGG[T/C]GGGTAGCATTAGCTTCTTAAAAACCTAATAACTGTTTCTTCAGCAAAACA

Long Flanking Sequence:

GCGATATCCATCGTGAAACAATAAATTGTGCAGCCCTAAGCCTTACCATTATTTGATTTAATATTTAGGGTTAATATACAAAAATATACATTTCATTATTTTGTCTTCCCTAAGTTTTTCCAAACATATATCAATGTCCTCAAAAATAAGATATTTTGAACAGTGTTGCTGTCTGGACAGTTGACTATAGACATTAAATTGATAGTGTTTTTTTTCTACTATGTCAATATATAATTTGTGTAATATGTAGTCAAGAGCAGATCTCAACTAGTTACCAACACTCTTCAGACTGTTTATTTGTATCCTCATACAGGTTTAAACAGTCCACTCAATGTCAGTTTATCTGATTGACAGTTCTGTTTCCATTTATCTTAGATTACTGAGCTTTGCGGGGCCACACGTCTGGGCCATTTTGGCCGGAGTCAGTTCTACATTGCACTGAAGCTCATTGCACTGGCCCAGTCTGGACTGCCCCTGCGCCTCGAGAGCCTGAACACTGG[T/C]GGGTAGCATTAGCTTCTTAAAAACCTAATAACTGTTTCTTCAGCAAAACAGAATGTTCTTTTCATTTGAACTTATCACATCAGTGTCATTTTGCACACACTCATTTTTACAAATGAATCCATTGTGACAGTTGCAGCACATTACATAACAAGAATTAGGATAATCTTACTGGCTCTTTGATGAAAAGGGCTAAATGTGTTTATCGTGAACTACAAGAGCTGACTTTTAGGTTCAAATCTTGCTATAGTACGTTGAAATCAAAGTAAATTCTTCCTTTCTCTCTTACATTTGGTTGTTTCTGTGAATTGCTTGTTGTTTGTGCCTTTAAGCCAAATGCAAATGCTTCTGTTTGTGTGTTGTCTGTCACGGCTTGTCTCTCTCTCTTTCTCTCTCTCTCTCTCTGTATATAACTACTGTCTGACATATAGCACTGTTTAGCTCTGCATGAATTTTGGAAAAGTTACACAGAAAGCTTTATAAAAGCATGAAAAATCGACTGA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa23781

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

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000019744	Nonsense	268	791	6	20
ENSDART00000132132	Nonsense	268	790	6	20

Genomic Location (Zv9):

Chromosome 20 (position 39262298)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	20	39334710
GRCz11	20	39237589

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAACAGTACGGACTGTGCCATCTGCAATGACCACAAATGAAATCCAAAGA[C/T]AGACCAGTGGTTACGACGACCCCTGGAAAATCACAGATGAGCAAAGACAG

Long Flanking Sequence:

ACTTTTTCAACATATTTCTAAATATAATAGTTTTAATAATTCATCTCCAATGACGGATTTCTTTTATCTTTGCCATGATGACAGGAAATAATATTTGACTAGATATTTTTCAAGACACTTCTATACAGCTTAAAGTGACATTTAAAGGCTTAACTATGTTAATTTGGTAAATTAGGCAAGATAGGGTAAATAACCTTAAAATGTTTTTTATTTATTTATTTTTTTTAAACTGCTTTTATTCTAGCTGAAATAAAACAAATAAGACTTTCTCCAGAAGAAACAATTTTATCAGACATACTGTGAAAATGTCCTTGCTCTGTTAAACATTATTTGGGAAATATTTAAAAAAGAAAAAAAATTCAACTGTATGTATGCATACATGTGTGAGTGTGTGTTTTTGTGTGTATGTATATAATTATTTTTCCCCTCTTCTGCTCTAGACGGAGAGCTCAACAGTACGGACTGTGCCATCTGCAATGACCACAAATGAAATCCAAAGA[C/T]AGACCAGTGGTTACGACGACCCCTGGAAAATCACAGATGAGCAAAGACAGTATTACATAAACCAGTTCAAGACCATTCAAGCAGATCTAACTGGTTTAATCCCAGGTTAGTGAGACCCAGTTTTAAACAATAACATTCTCTCTGTGGTTTACACAATTAAACTTACCGGCCTAAAATATGTTGATCCTCTGTTATTCAGGCTCTGCCGCAAAAGAATTCTTTACAAAGTCAAAACTGCCTATTCTAGAACTGTCTCACATTTGGTAAGTACTTTGACATGAGATACATTGGTTTGGATTGTCAAAAACAGATGTGTAAAAAAGACCTACTAAATAACGACATCGGTTATTAATCATAGCCATTTGTTATTGTTGCTTGGAAAAAAAAGCAAGTTACTGTATAACACTATATTATTCCAGTGTGCTTTTTTTATACCTTAAAATATTTGTCTTATCTGTATCGACTGAACTGCTGTACCTTGCAGGGAGCTATCAGATTTC

Associated Phenotype:

Not determined