ZMP

SPTBN4 (1 of 3)

Ensembl ID:

ENSDARG00000087594

Description:

spectrin, beta, non-erythrocytic 4 [Source:HGNC Symbol;Acc:14896]

Human Orthologue:

SPTBN4

Human Description:

spectrin, beta, non-erythrocytic 4 [Source:HGNC Symbol;Acc:14896]

Mouse Orthologue:

Spnb4

Mouse Description:

spectrin beta 4 Gene [Source:MGI Symbol;Acc:MGI:1890574]

Alleles

There are 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa23377	Nonsense	Available for shipment	Available now
sa32220	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa23377

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000078561	Nonsense	448	1177	8	17

Genomic Location (Zv9):

Chromosome 18 (position 44468054)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	46053548
GRCz11	18	46051566

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACACATGTTTTCCTCAGGTAAGACAGCTACAGGAGAGCGCAGCACAGCTC[C/T]GAACGGTTTACGCCGGTGAGAAAGCAGAGGCAATTGCCATGCAGGAACAC

Long Flanking Sequence:

CCATATTAATAGCATGTCAGTTTGGCTTGCTCACCGCTGGACAAGCACTAGTGGCTTTTAACACATGAGAGAGGGTTCTTTTGCTGTGCTCGTGTTTAAGGAGGCGTGGCTCTAGACGGCAGGGGAGGGACTGTGATTCAGAGATTTATGCTAAGCTGTTAGCATTGTGGAAGATCACCTACTGCACCTTTAAGCCTTTACATGTCACTTTAAGCTGAATTCTAGTATCTTGAAAAATATCTAGTCAAATATTATTTACTGTCATCATGGTAAAGATAAAATAGATGAGTTATTAGAAATGAGTTATTAAAACTATTATGATTAGAAATGGGTTGAAAAAATCTCTCCGCTAAACAGAAAGTGGGTAAATAAATAGGTAAAGGGGGCTAATAATTCAAGGGGTTAATAACTCTGACTTCAACTTAATCAGTTTGTGGATAGATCTCTCTCACACATGTTTTCCTCAGGTAAGACAGCTACAGGAGAGCGCAGCACAGCTC[C/T]GAACGGTTTACGCCGGTGAGAAAGCAGAGGCAATTGCCATGCAGGAACACGAGGTGATGCAGGCGTGGAAAGAGCTGCTGATATCTTGTGAGGACTGCCGAATGCAGATAACCACAGCCACAGACAAGCTACGTTTCTTCGGGATGGTGCGTGACCAGCTGATGTGGATGGAAAGCATCATCTGCCAGATAGGAACTGGGGAGAAGCCAAGGTAGGACACACATGCTGGGACACTCGCTCTCCACTTATAGAAACTCATTAAGGTGCTTTAACATTATAATGCATGAAGATTTGCATCAGAGCAGATGGAGATTAGCCACTGTGGCCGCTGGAGTGTATTATAGATATCATACCACGTGCACAGATAAATGATAAGGTGGTAAGTGCATAACCTGCAAGAGTATTTATTCTTCCGATCAAGCATAATAGTTCTGTGTTTATTAAGAGCACTGTGTAGGAAAACAATAGATCTGTTACAAAACTTTTTGAGCTGCTACTAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa32220

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000078561	Essential Splice Site	943	1177	13	17

Genomic Location (Zv9):

Chromosome 18 (position 44453713)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	46039207
GRCz11	18	46037225

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCACGTTAGCAGAGATTGTGGAGCAGCTTCAGGAAAGAGAAGCAGCACAG[G/A]TGTGTGGACAGTCTGTTTGTTTCTCTTGTTCAAACTACATTAGGTCACAT

Long Flanking Sequence:

TATCATAATTATAATAATAATATTAATAATAATAATATAAGTAAAAATCATAATATAATAAATATAAATATAATAATATAAATATAAAGTATAATTGAGCCTTAACAGAGCTTAACTCCACACACAGTAGAGAAGGTAATTAAAAACATTGACCTGGAAAAATTTGATCGATTATAGGTCCTGAATGTCGATTTCGATTTCTTTTCGATTAATCAGCCAGCCCTGGCGTCGGCCATCAGTATAAGAGAGCACACTGATTGGTCATTCAGCAAGGAATCATTGCGAGAACAAAAACGACAACTCAAGTAAACAATACAAGTCAAGAAGGACAGAAGCCAGCTGTTATTTCTCTGCATTTCTCAAATATTTGCAGACGATATAGATTATTAGATTAAGAGACCTATTGCAAGGTTTCAGACTTCCCCTTTTATGTTGGCAGGGAGAAAAGATCCACGTTAGCAGAGATTGTGGAGCAGCTTCAGGAAAGAGAAGCAGCACAG[G/A]TGTGTGGACAGTCTGTTTGTTTCTCTTGTTCAAACTACATTAGGTCACATGCTCATTATTACCTTATATTTGAAACTCAGGCTAGAGGAGAGATTCCACGACTCCCCAATGGATTGCCGGAAAAGACTTCTCGACCGGACCGGCCTCGGGCTCGGGATAGACCCAAACCGAGAAGACGACCAAGACCCAAGGAACCAACAGCTGGCGAAACACGACGCTCGAGGTCTGCTCCAGCTCAGAGCAGTCCACAAGTACCCCTGCCACCCACCCACACGGCCCAGCACGAAGGGTTCCTCTTCCGAAAAATTGACATCGAGGGCCAAAAGAAGAGTTCAAACAGGTGGGATTTTGTGGTCTAACCATTAAGGGTACATGGCATGGAATTAGCATGGAAATGGCTAAACTAAATATGCCAATCAGTATGATTGGTTATTCAAAGCTATGCTAATTTTGTTATTAGCATTGTGTATTGATGCTAGAGCACTGACATTTTTAATACA

Associated Phenotype:

Not determined