ZMP

SH2D6

Ensembl ID:

ENSDARG00000090607

Description:

SH2 domain containing 6 [Source:HGNC Symbol;Acc:30439]

Human Orthologue:

SH2D6

Human Description:

SH2 domain containing 6 [Source:HGNC Symbol;Acc:30439]

Mouse Orthologue:

Sh2d6

Mouse Description:

SH2 domain containing 6 Gene [Source:MGI Symbol;Acc:MGI:1918380]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15320	Essential Splice Site	Available for shipment	Available now
sa34277	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa15320

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:

A > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000124093	Essential Splice Site	8	147	2	6

Genomic Location (Zv9):

Chromosome 8 (position 2299861)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	2067834
GRCz11	8	2126377

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ATATTTAAAAATCTTACACACTTAAATATATATATACTTGTTCTGTTTCC[A/T]GTCCCCCTACTCCTCCATCTCTGGACAKCACAGGTCAGCACAGGTCTTTT

Long Flanking Sequence:

CTGTTAAAAAGCTGTTAACTGTGAACTGTTTGCTAGTAAAACGTTCAGTTTTTACACTTACAGAGTCCACCATGTAAATAGCAAATGCACCATGGAGCGACTCATAAAGGGAATGTGAGATGAGACTCTGACTGGTTCAATGCAGGTTATGCTCAAAACACACCCAGAACTCATTAAGAGAATAAGCACAACCCTGTTAGACCATGCACCAGGGCGCAGAGTGTATTTTTCAGTCTTTAAAATAGCAAAAGCGGATTCAGACACTGCCAGACACGGCCTTAATGCTTTTGAGCCATGTTCTTTAGACATTGCACCTAGATCGTTAATATAGAGCCCAATAAATCTAAATCTGTTTAGGTTTTTTTTTTAAAAGTCACATCTTTTAAAGCATGAATAAGCAAACATTTGTATAGATAATTAGCATAAAATGTTTTTACGTACAAATCAGTAATATTTAAAAATCTTACACACTTAAATATATATATACTTGTTCTGTTTCC[A/T]GTCCCCCTACTCCTCCATCTCTGGACAGCACAGGTCAGCACAGGTCTTTTATCATTCATATTTATCCTAGAATTTCCTGATCAGTCTTTTTCTGATTGAGTCCTGCTCTTTCCTCATTCAGCTCTCTCTTTTGGAGCAAAGCTGGTCGCACAGGTAAACACTACAGACATGCTCAGAGTTTAACATGACAAACTGCCAAAGCTTCATTCAGGATCTGATTGGCTGATGGTTTTGTTAATATTCAGGAGGCGGGGCTACAGGACAAAGACTGGTTTGCTGGAGATTGTGACCGTAAGACTGCTGAGGAAACTGTGCTCCGGATGAACAAGGTTTGTGTGCGTTTATGTGTGATTTGTTTTTTTTTTTTGTATTGTCATGCTTATCCCTATTTGGAAGTGTTTAGTCGAGGTATACTTTTCAGAATTAAAATGTGTATATATACATTTGGTGACACGGTGGCTCAGTGGTTAGCACTGTGGCCTCACAGCAAGAAGGTCACT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa34277

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000124093	Essential Splice Site	57	147	4	6

Genomic Location (Zv9):

Chromosome 8 (position 2299531)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	2067504
GRCz11	8	2126047

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAGATTGTGACCGTAAGACTGCTGAGGAAACTGTGCTCCGGATGAACAAG[G/A]TTTGTGTGCGTTTATGTGTGATTTGTTTTTTTTTTTTGTATTGTCATGCT

Long Flanking Sequence:

GAGCCCAATAAATCTAAATCTGTTTAGGTTTTTTTTTTAAAAGTCACATCTTTTAAAGCATGAATAAGCAAACATTTGTATAGATAATTAGCATAAAATGTTTTTACGTACAAATCAGTAATATTTAAAAATCTTACACACTTAAATATATATATACTTGTTCTGTTTCCAGTCCCCCTACTCCTCCATCTCTGGACAGCACAGGTCAGCACAGGTCTTTTATCATTCATATTTATCCTAGAATTTCCTGATCAGTCTTTTTCTGATTGAGTCCTGCTCTTTCCTCATTCAGCTCTCTCTTTTGGAGCAAAGCTGGTCGCACAGGTAAACACTACAGACATGCTCAGAGTTTAACATGACAAACTGCCAAAGCTTCATTCAGGATCTGATTGGCTGATGGTTTTGTTAATATTCAGGAGGCGGGGCTACAGGACAAAGACTGGTTTGCTGGAGATTGTGACCGTAAGACTGCTGAGGAAACTGTGCTCCGGATGAACAAG[G/A]TTTGTGTGCGTTTATGTGTGATTTGTTTTTTTTTTTTGTATTGTCATGCTTATCCCTATTTGGAAGTGTTTAGTCGAGGTATACTTTTCAGAATTAAAATGTGTATATATACATTTGGTGACACGGTGGCTCAGTGGTTAGCACTGTGGCCTCACAGCAAGAAGGTCACTGGTTCGAGTCCTGGCTGGGTCGCTTGGCATATCTGTTTGGAGTTTGCATGTTCTCCCCGTGTTGGCGTGGGTTTCCTCCGGGTGCTTTGGTTTTCCCCACAGTGCAAAGACATGTGTAATATGGTGTAGGAGTCCATCTATTAGCTCAATGACGAAACTAACAGCATGGTCGAAGGTTTAATGCATGTAAGCCTTTTCTAGTGCTTCTGAAAAGAATTTTATTATTTATTAGAATTTATTTATATTAGTTTTTTAGCTCCGAATTCAATCTGACTCCAATTTCAATGATCCTAAAATGTAAATTATATTTCTAATTGTAAGAACGGATCA

Associated Phenotype:

Not determined