ZMP

SPTBN1 (1 of 2)

Ensembl ID:

ENSDARG00000079113

Description:

spectrin, beta, non-erythrocytic 1 [Source:HGNC Symbol;Acc:11275]

Human Orthologue:

SPTBN1

Human Description:

spectrin, beta, non-erythrocytic 1 [Source:HGNC Symbol;Acc:11275]

Mouse Orthologue:

Spnb2

Mouse Description:

spectrin beta 2 Gene [Source:MGI Symbol;Acc:MGI:98388]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa21980	Nonsense	Available for shipment	Available now
sa13420	Splice Site, Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa21980

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
ENSDART00000049651	Nonsense	98	517	2	7

Genomic Location (Zv9):

Chromosome 11 (position 44132829)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	42866757
GRCz11	11	43158838

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGATGCCTCTTGCTACGTCAACAGATCATGGCAACAATTTACAGACTGTT[C/T]AGCTATTAATCAAGAAAAACCAGGTAATGCATTTTGGGCCTCCTCTTAAC

Long Flanking Sequence:

GCAGGAAAGTGGTGGAGCAGAAGTTCCAGGAGCTGCTGGACCCACTGTTGAAGAGGAAAAACTTCCTCATGGCCTCACGTGAGATCCACCAGTTTAACCGCGACGTGGAGGACGAGATTGTGAGTTCCGCTTTGAAATACCTGTTTATGTGTATTATTATAGTTTAGCATTTTTAAATGAGTTTTTATTTCAGTAATATTTTTAATTTGTTGTTCATTGGAGTTTAGTTTTAGTTTGTTTTATTAATGGTTTTGTTAGTTGTAGTTTCGTTTATTTTCTCAACAAAAGCTCAATTGTTATCTGTAAAAGTGCATCTACAGGCACTTCTATTTCAGTTAAAGAAAATGTCTTTTGACCAATAGTTTTGGTCTTAGTTTTTGTTTACTAAAGTAATCTTGGTCTCCAGCACAATTTTAACTGTAGTTTCTCTGCAGCTCTGGGTTGAAGAGAGGATGCCTCTTGCTACGTCAACAGATCATGGCAACAATTTACAGACTGTT[C/T]AGCTATTAATCAAGAAAAACCAGGTAATGCATTTTGGGCCTCCTCTTAACCTCTTCCCCCCATTCATATAACGATGCGGTTCAGGATCTTTTTTTCTTTTAGTAACTTAATAACTTACTCGATATATTCTCCATCACTCTGAAAATAAAGTTGCTTAACACCTGATGTATGCACTATATAGTGGGTAAGGAGTGGTTTTAAAAAATCCTCATTAGCATATTTAAATTTCAGCTCCTTATCACTTGTAAACACATACAATAACCATAACAATGGTGATTCATATAATGGTTCAGTTCAGCATGATTCTTTTGATTCAGGACTCAGTAACTCAACTTAATATGTTCTTCATCACTCTGAAAGTGAAGTTGGCTAACACCTAATATAGTGTACTATATAGTGAGTAGAGAGTGGTTTTGAACAGCTTATGATTGGTCGAGAAAAAATCTCCATTAACATATTTATTTCAGCTCCTCGTCACTTACGCCCCATTCACACGGGGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa13420

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 > T

Consequence:

Splice Site, Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000049651	Splice Site, Nonsense	243	517	5	7

Genomic Location (Zv9):

Chromosome 11 (position 44139268)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	42860327
GRCz11	11	43152408

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AAAAAAACTTTCGTGATTTTCAGTAACTTTGACTCTGTGTGTGTYGTAGT[G/T]AGAGGATTGGCATGCGTCAGTCRCAGGTGGATAAACTGTACGCTGGACTG

Long Flanking Sequence:

AGGGGTTATTGTGCTAAAGGCAACTGTACTTAATGTGAGTACGCCCTTAAACATTTAATTAAATGCAAAGCTACAAGAAGCAAAAACAGCGGATGGAGTATACACTAACCTGCGCAGTATTCAGACACAAGATGGCGCCAAACAGACAAAAACACAAAGCTGACAGAAACGAAAACAGCTGAACGGAGCATATACTTTCCTTCATATTATTCATTCACAAGATGGCACCAAATAGTCAAAAACCTCAGTGTGACACAAGCAGATACATATGAATGTGGATGTTAGAATATGCATGTGAACATATTCACTGACGGTCAAGGTGATTAGAAATTCCCGAAAGAACCTGTGTTGTTTAGCGGTTGTTATCTGACAAATATCAAACCTTGGATTGTTGCGACTGACCAATCCAAATCAAGTATTCCAAGCGGCCGTGTAATAATATCTTATTTAAAAAAAACTTTCGTGATTTTCAGTAACTTTGACTCTGTGTGTGTTGTAGT[G/T]AGAGGATTGGCATGCGTCAGTCACAGGTGGATAAACTGTACGCTGGACTGAAGGATCTGTCGGAGGAGAGGAGAGGGAAACTGGAGGAGCGCTTCCGTCTGTTCCAGCTGAACCGTGAGGTGGACGATCTGGAGCAGTGGATCGCGGAGCGGGAGGTGGTGGCTGGATCTCACGAACTCGGACAGGACTATGAACACGTCACTGTGAGTACAGCAAAAATACTGCTTTGTTCTTACAGTAGCTTGGTGTTTTCATTTCTATGGAAGACTGCACTCAACGAAAACTAAAAACAGAGAAACCTTAAACCTAAATGTAGTTACTCAAAGCATAAATGCTTCTCTTCCACAGATGTTGCAGGAGCGTTTCCGTGAGTTTGCTCGCGACACTGGAAACATCGGTCAGGAGCGTGTGGATGGAGTGAACCGCATGGCGGACGAACTGATCAACGCTGGTCATGCAGACGCCGCAACCGTAGCCGAGTGGAAGGACGGTCTGAACGA

Associated Phenotype:

Not determined