ZMP

BTBD2 (1 of 2)

Ensembl ID:

ENSDARG00000060750

Description:

BTB (POZ) domain containing 2 [Source:HGNC Symbol;Acc:15504]

Human Orthologue:

BTBD2

Human Description:

BTB (POZ) domain containing 2 [Source:HGNC Symbol;Acc:15504]

Mouse Orthologue:

Btbd2

Mouse Description:

BTB (POZ) domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1933831]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa6022	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa18657	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa6022

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:

A > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000085917	Essential Splice Site	232	584	3	9

Genomic Location (Zv9):

Chromosome 2 (position 57026885)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	57011778
GRCz11	2	57225000

KASP Assay ID:

554-3673.1 (used for ordering genotyping assays)

KASP Sequence:

GGCACGCATGYGTTACACTTTCCAGAAATATGCAGATCTTGTTTCTCCTC[A/T]GATTCCTGTACTCTGATGAAGTTCATATCGGACCCGAGACRGTGATGACG

Long Flanking Sequence:

CATGCATGGGGGAAATGTAATTTAATGCAGTGCTTCTTGCACAATCTGAGACCCACTTTATATCAGATATCACTCAGGCAGTGGAGATTTTTAAAGAAACCATATCTTAAACGCACTAATTTTGCAGTGGCATTCAGTTCACCGGAATCAGTTAACCCAGGTTACTGGCAAATTAAAAGTCCTATTAGCATGCTTCGGCATATACCCTATTAAAATAGTATTTATTGAATACAAATATTATAAATGCATTATTTCTTGTACTTAAAAAGTATTCTAAATATCTAAAATCTAATGTTCTCTGTTGCAGGTTTGTTCTGGCGGTTGGCAGTGCAGTATTTGATGCCATGTTCAATGGAGGCATGGCCACCACGTCCACAGAGATCGAGCTCCCGGATGTAGAACCTGCTGCATTCCTTTCATTGCTTAAGTATGACATCTTATTTCCTTTTCGGCACGCATGCGTTACACTTTCCAGAAATATGCAGATCTTGTTTCTCCTC[A/T]GATTCCTGTACTCTGATGAAGTTCATATCGGACCCGAGACAGTGATGACGACTCTCTACACGGCTAAAAAATACGCTGTTCCGGCTCTAGAGGCACACTGTGTGGAGTTTCTGAAGAAGAACCTACGAGCGGATAATGCGTTCATGCTGCTTACACAAGTATGTTTTGTTAAGCATGTATTTATTACCCTTCATTTTGTGCAAATGGGGTATATGCCTAGTGAGCTGGTGTGTTTCCCATACTGATAAACCTCCGGTGACCTGTTATTGTGAGTTTTTTTCCATTTTATATGGTTGCTTTTACAGCATTAATGTTGTAATGTAATTAAAACACATTCAGTTAAACAGACTTTGGCATTTATTTAGTTGCTCAAGCGTAAAACGAGACAAAAGCCGTTTACTCGCACACACCTGTCAGACTCAGCAGGCTAACGCAGAAGCTTCATAAATATACTGGGGTAAAATAAATGCTCATATTATAAAGACATGGCGGGGGAATGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa18657

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:

A > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000085917	Essential Splice Site	483	584	8	9

Genomic Location (Zv9):

Chromosome 2 (position 57014331)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	56999224
GRCz11	2	57212446

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGATTTCCTCCAGMAACTGTAMAGACTGTGACGCTGTGTGTTTTATTTTC[A/T]GATCATTCACACYGACAGTAACACAGTWCTGGGTCAGAACGACACKGGTT

Long Flanking Sequence:

GGCCGCGCTGCTGTTTGCGGGGCAAAGAGTGCAGCATCACACGCTTCGGGCAGGTGGAAAGTCGCTGGGGCTACAGCGGGACCAGTGACCGGATCCGGTGAGAATACACCACCGTTAATACACAAACACTCTCAATATGGCATGGTATGATATCGATTAGCATTGTAACGAGTATGTAATGTGTGCTGTGCATATACTGTCCTGCTCAAAGGGTGAACTGAAGCTCTGTGTTTACAGGTTCTCTGTCAGCCGCAGGATATTTATTGTGGGCTTTGGGCTTTATGGATCCATACACGGACCTACAGACTATCAGGTCAACATACAGGTATGGCTGTCCAAAATTCATAAGCAATTTAAAACCAATGCAAGTTTTAAAAAAGGACACCCTAGCTTGTTATTTTTGACGCCACATAATGCTCTAAATGTTGTCCTTCCAGCACTGCAGTCCTGAGATTTCCTCCAGCAACTGTACAGACTGTGACGCTGTGTGTTTTATTTTC[A/T]GATCATTCACACTGACAGTAACACAGTTCTGGGTCAGAACGACACGGGTTTCAGCTGTGACGGGTCTGCAAACACATTCAGAGTCATGTTTAAGGAGCCAGTGGAGGTTCTGCCCAACGTCAACTACACCGCCTGTGCTACATTAAAGGTAAACAGCAGATAAATATTAATATAGTATGTCAGGGGATATGCAGGAATCCTAAAGATAATTTTAATACTTTTTATGTCCTTCTTTAAAAAGGATTGATAAATCAGCATCAAACCTTTAACTTAATAAACAGTTGTAGTTAAATCAATGAAGCTCAACCGTGCAACAGAACTCAGGAAAGCTTGGAAGAAAGAAACCTTGAAAGAGTAAATTACGTGGTTGTTTTCAGTGACAGGTCTCAGCCACTGTTTAAACTCCAACCAGGAGTACGCTAACTTGCATTATCCCATTTTGCCGTCTGTTTTGCTCTACAGCAGGGCTATTCAATTAGTCACGGGGACCAGTTCATGAA

Associated Phenotype:

Not determined