ZMP

nf2a

Ensembl ID:

ENSDARG00000020204

ZFIN ID:

ZDB-GENE-080722-7

Description:

merlin [Source:RefSeq peptide;Acc:NP_001122179]

Human Orthologue:

NF2

Human Description:

neurofibromin 2 (merlin) [Source:HGNC Symbol;Acc:7773]

Mouse Orthologue:

Nf2

Mouse Description:

neurofibromatosis 2 Gene [Source:MGI Symbol;Acc:MGI:97307]

Alleles

There are 7 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa20351	Nonsense	Available for shipment	Available now
sa15625	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa20351

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:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000099617	Nonsense	59	593	2	17
ENSDART00000132564	Nonsense	59	593	3	18

Genomic Location (Zv9):

Chromosome 5 (position 12883457)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	11294860
GRCz11	5	11795077

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AAAGGATCTGTTTGAACTTGTATGCCGGACATTGGGGCTCAGGGAGACTT[G/A]GTTTTTTGGTCTGCGGTACGACGTCAAAGACACTGTGGCCTGGCTGAAAA

Long Flanking Sequence:

TTTTTCACCAGCTGAATATGGTAATTTTTCTTTCTGGCCTCTTGACAGTAGTCCTTGGATAAAAGATGAACTTATAGGTCCAAAAATGAGTGCATGCGCTTGCTGACAGCAGTGACTTTGTAATGATGCTCAGACTAATTTCTTCGCTTTGTGTCCGCATAGTCTGTGGAAATGAGGTTATTCAGGGAACGTCGCTGTTCATTACGCCGGTGCTGTTTAGATTTGTGGTCAGTCTGAATTCGATTAGTCTGCTTCAATCCTTAGAGAGTTTAAGCTGTTTCCTATAAAGACTTCTTGAAATTAAAATGAGCTTTTTATTGTGATCTGTCAATGTTCATGTATGTCCCGAACCCAACTTCTTGTTTTAGTTTGAATTATGACATAGGAATGGGTCTAAAATACTTTCAATTTCTTTTTTGTTATCTTGTTTGGGCAGCTGAAGTGGCGAGGAAAGGATCTGTTTGAACTTGTATGCCGGACATTGGGGCTCAGGGAGACTT[G/A]GTTTTTTGGTCTGCGGTACGACGTCAAAGACACTGTGGCCTGGCTGAAAATGGACAAGAAGGTAAATCACTAGTTTAAACTTTTTTTTTTTTTTTTTTGCACGATTCTGGCTAAAATGAGAATTATGATTTTTTTTTGCTTAAAATGAAGATCATGATTTTCTCACGATTCTGTAGATGTAAAATAAAGGTTAATATGAGAAGGCTATTATTATTGTTATTTCTCAAACTTAAAACAACAATAATGATATTAGGCCTATGTGTAAGTCTACTGTTGGTTAAAATGCTACATTTTGTATAGATTTGGAAAGGTGAACTTGAACAGACTTCAGTGTCCTGTTTGATAATTCACTGTAAAGTGATGACATCCAAATATATTCATATTCAACTATTCATAATTCTAAAATAGGGACGCTTATTTCGGTTAATTTTGCCAACCGACAACCGCCGCTCGTTAACCGAATATTAACTGTTAACAGATTAATATTAAAATATTATTTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa15625

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000099617	Essential Splice Site	577	593	16	17
ENSDART00000132564	Essential Splice Site	577	593	17	18

Genomic Location (Zv9):

Chromosome 5 (position 12827544)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	11238947
GRCz11	5	11739164

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ATAATGAGAACACGGAGAAAGGCACCAGCAAGCAGAGCAACTTTAAAAAG[G/A]TGGGTTAAATGCATCTCGCACAAAAGCCAGACAATGTGTGATACTTGATT

Long Flanking Sequence:

AAAAAAAACTAAATATTGCAAATGTCCGTTTTTTTTTTTCAAATATTGTGCAGCTCTAGTACAGAGAGTTATTTTTTACATGTATTAATATTAATAACTAGAGTCATTTGTTTTCAGTTTTGATTGAATTCCACAATGCCACCTTTCCTGCTGAGTTTTAATTGAATGAATGCATCTTTACAACAAGTATAACTCCTACAGACCCTGTAGTTTTAGAATTAGCCAATGTCGTTACACACAAAAAAACAGAGAGGTGACAAAACTGTTGCGAAAAGGCCTTAAAGCAGATGGAGACCAAGAGAGCAGCTTTGTTACACAATGCGTCTGTCCTGTTTGGCAGGGTTGAGTACATGGAGAAGAGCAAACACCTTCAGGAGCAACTGAATGAACTGAAGACTGAGATTGAGTCATTAAAGCTAAAGGAGCGAGAAACGCCTCTAGACATCCTCCATAATGAGAACACGGAGAAAGGCACCAGCAAGCAGAGCAACTTTAAAAAG[G/A]TGGGTTAAATGCATCTCGCACAAAAGCCAGACAATGTGTGATACTTGATTTTTAGATTTGCTAAACCTCATGCTAAAGCCGGGACAATCTAATGGTGTCTTCCAACTCATTTTCGTTTTGTTTTGTCTTTTATCTCTATTTGTTGATTTGATATTAGATAAAGTAAAAGAAAAGAGTGAGATATGAGATGTGAAATGATGTAAGCTGTGCTCAAACTTTTTTTCTTTTTGCCCAAGACATCTTACTTCAGTGCTTTCCACAGGTTTGAAATGTACTTGCGGTGGTAGCCGGATTGAAACACACTATTTACCTACGTCACATATAGGGATGCAACGATTAACCGGTTTCACTATTACCATCGCTTTAATTCGTCACGGTTAAATAATAGTATAGGCTTCTCAACACCGTGTTTCTGCACGGATCAAAACTGTGGCAACTAAGCAAAGTTATGCCAGCTGTGCGCTAGTTTGTACACTGAGGCTAATAACCATGCACATTGG

Associated Phenotype:

Not determined