slco2b1

Ensembl ID:
ENSDARG00000054609
ZFIN ID:
ZDB-GENE-051023-6
Description:
solute carrier organic anion transporter family, member 2b1 [Source:RefSeq peptide;Acc:NP_001032767
Human Orthologue:
SLCO2B1
Human Description:
solute carrier organic anion transporter family, member 2B1 [Source:HGNC Symbol;Acc:10962]
Mouse Orthologue:
Slco2b1
Mouse Description:
solute carrier organic anion transporter family, member 2b1 Gene [Source:MGI Symbol;Acc:MGI:1351872]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa37368 Essential Splice Site Mutation detected in F1 DNA During 2018
sa37367 Essential Splice Site Mutation detected in F1 DNA During 2018
sa18539 Essential Splice Site Available for shipment Available now
sa24018 Splice Site, Nonsense Available for shipment Available now
sa24017 Nonsense Available for shipment Available now
sa25168 Nonsense Mutation detected in F1 DNA During 2018
sa9418 Nonsense Available for shipment Available now
sa19270 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa37368
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076840 Essential Splice Site 26 677 1 14
ENSDART00000088735 Essential Splice Site 26 669 1 15
ENSDART00000129046 Essential Splice Site 26 133 2 4
ENSDART00000145109 Essential Splice Site 26 677 2 15

The following transcripts of ENSDARG00000054609 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 39010114)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 40150179
GRCz11 21 40173732
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CACAGACAGCGCGACCTCGTAGATCAATGGGTCTCTTCAACAATATCAAG[G/A]TATGTTTCTCAATATAACTAACAGCCTTAATTGAATCCATAGAAATATGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37367
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076840 Essential Splice Site 197 677 4 14
ENSDART00000088735 Essential Splice Site 197 669 4 15
ENSDART00000129046   None 133 None 4
ENSDART00000145109 Essential Splice Site 197 677 5 15

The following transcripts of ENSDARG00000054609 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 39001887)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 40141952
GRCz11 21 40165505
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCCTACATAGACGATTATGCAGAAAGGAGGAATTCACCCTTCTACCTAGG[T/C]TTGATTGGACATTGATTATATACAGTATTCCCATAATATGGTGGTTTATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18539
Current 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:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076840 Essential Splice Site 554 677 12 14
ENSDART00000088735 Essential Splice Site 554 669 12 15
ENSDART00000129046   None 133 None 4
ENSDART00000145109 Essential Splice Site 554 677 13 15

The following transcripts of ENSDARG00000054609 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 38983039)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 40123104
GRCz11 21 40146657
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GATAAGTCTTTTGCYGTGGGAATTCAGTTCATGCTGTTCAGAGTTCTTGG[T/G]AAGCAATAGAAAGTCAATCAGGCAGAACAGACATGTCATATATTAATAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24018
Current 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:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076840 Nonsense 631 677 14 14
ENSDART00000088735 Splice Site None 669 None 15
ENSDART00000129046   None 133 None 4
ENSDART00000145109 Nonsense 631 677 15 15

The following transcripts of ENSDARG00000054609 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 38977711)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 40117776
GRCz11 21 40141329
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTTGGTGCTTCGGAGGGCAGATTCATCTCAACAACAACAACATCAACAA[C/T]AACAACAACAACAACAACAACAACAACAACAACAACATCATGAAATGAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24017
Current 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
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076840 Nonsense 634 677 14 14
ENSDART00000088735 Nonsense 626 669 15 15
ENSDART00000129046   None 133 None 4
ENSDART00000145109 Nonsense 634 677 15 15

The following transcripts of ENSDARG00000054609 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 38977702)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 40117767
GRCz11 21 40141320
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCGGAGGGCAGATTCATCTCAACAACAACAACATCAACAACAACAACAA[C/T]AACAACAACAACAACAACAACAACAACATCATGAAATGAACATTCAAACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25168
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076840 Nonsense 638 677 14 14
ENSDART00000088735 Nonsense 630 669 15 15
ENSDART00000129046   None 133 None 4
ENSDART00000145109 Nonsense 638 677 15 15

The following transcripts of ENSDARG00000054609 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 38977690)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 40117755
GRCz11 21 40141308
KASP Assay ID:
554-7571.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTCATCTCAACAACAACAACATCAACAACAACAACAACAACAACAACAA[C/T]AACAACAACAACAACATCATGAAATGAACATTCAAACCAAAAGTGAAAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9418
Current 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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076840 Nonsense 676 677 14 14
ENSDART00000088735 Nonsense 668 669 15 15
ENSDART00000129046   None 133 None 4
ENSDART00000145109 Nonsense 676 677 15 15
ENSDART00000076840 Nonsense 676 677 14 14
ENSDART00000088735 Nonsense 668 669 15 15
ENSDART00000129046   None 133 None 4
ENSDART00000145109 Nonsense 676 677 15 15

The following transcripts of ENSDARG00000054609 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 38977574)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 40117639
GRCz11 21 40141192
KASP Assay ID:
2261-5995.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GATGATAAACAGACTGTGAGCAATTCAAATGGACACWGCAATACAACGTG[T/A]CCTTAGAGAGTAAAAACATCTGTGATTGAAAGAATGAAACTGACTGTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19270
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076840 Nonsense 676 677 14 14
ENSDART00000088735 Nonsense 668 669 15 15
ENSDART00000129046   None 133 None 4
ENSDART00000145109 Nonsense 676 677 15 15
ENSDART00000076840 Nonsense 676 677 14 14
ENSDART00000088735 Nonsense 668 669 15 15
ENSDART00000129046   None 133 None 4
ENSDART00000145109 Nonsense 676 677 15 15

The following transcripts of ENSDARG00000054609 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 38977574)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 40117639
GRCz11 21 40141192
KASP Assay ID:
2261-5995.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GATGATAAACAGACTGTGAGCAATTCAAATGGACACAGCAATACAACGTG[T/A]CCTTAGAGAGTAAAAACATCTGTGATTGAAAGAATGAAACTGACTGTTTA
Associated Phenotype:
Not determined

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