ENSDARG00000062610

Ensembl ID:

Human Orthologues:

PCDHB1, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA3, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8

Human Descriptions:

protocadherin beta 1 [Source:HGNC Symbol;Acc:8680]
protocadherin gamma cluster [Source:HGNC Symbol;Acc:8695]
protocadherin gamma subfamily A, 1 [Source:HGNC Symbol;Acc:8696]
protocadherin gamma subfamily A, 10 [Source:HGNC Symbol;Acc:8697]
protocadherin gamma subfamily A, 11 [Source:HGNC Symbol;Acc:8698]
protocadherin gamma subfamily A, 12 [Source:HGNC Symbol;Acc:8699]
protocadherin gamma subfamily A, 3 [Source:HGNC Symbol;Acc:8701]
protocadherin gamma subfamily A, 5 [Source:HGNC Symbol;Acc:8703]
protocadherin gamma subfamily A, 6 [Source:HGNC Symbol;Acc:8704]
protocadherin gamma subfamily A, 7 [Source:HGNC Symbol;Acc:8705]
protocadherin gamma subfamily A, 8 [Source:HGNC Symbol;Acc:8706]

Mouse Orthologue:

Pcdhb1

Mouse Description:

protocadherin beta 1 Gene [Source:MGI Symbol;Acc:MGI:2136730]

Allele Name	Consequence	Status	Availability
sa27596	Nonsense	Mutation detected in F1 DNA	Not yet available
sa38795	Nonsense	Mutation detected in F1 DNA	Not yet available
sa41645	Nonsense	Mutation detected in F1 DNA	Not yet available

Allele Name:

sa27596

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:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000064535	Nonsense	36	819	1	1

Genomic Location (Zv9):

Chromosome 10 (position 21763654)

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACTGGGTCGTGTTTATCCATGGAGGGTCTTATTCATCATGGCCGTTTTTT[C/A]GATCTTAAAGACAAACGCACAGATTCGGTATTCAGTTCCAGAGGAAATGA

Long Flanking Sequence:

TATATATATTTGTACTTCCAAAGTATGATCTTTTTTATATTCCTAATCCTACAGTACCTACACATTTTATCTACATTGTTCAGGGATATTTTATCTATTAGATAAATGATGGAATGCAGTTTTAGTTTAGGGACATTTCATAGCTTTTATTATTGCCGTTTCTCGTTTTTAACTCTAAGGGCCGCTGTTGATCTGTAAAACAGAAATGCACGTAGGTTACAGCCTGTGGTTAGTGGAACTGTGCTGATGTTGCGTATGTTATTGTGAAGGATACTAGAGAGAGTCGACGAAGGAAGACTGTCATTGACTAACAGCGACCAAACGGGATTTATTTGTGAATATTTCAATTACTAAACATCACAAACACTGTATTCTTAAATCATTATATTTAAAGATGTTTGTGTCAAGATCTTATGGGATGATCTTAAGTTTTCAATCGCGAAGACAATCACTGGGTCGTGTTTATCCATGGAGGGTCTTATTCATCATGGCCGTTTTTT[C/A]GATCTTAAAGACAAACGCACAGATTCGGTATTCAGTTCCAGAGGAAATGAAGAAAGGATCTCTTATCGGGAATATAGCTCATGATCTTGGTCTGGATGTTCAAAGACTGCGCTCGGGTCGAGCTCGTATCGTGTCTGGCGACAGCACCGAGTATGTAGAGCTCAAAACAGACAAAGGGATTTTGGTTGTAAAGGAGAGAATTGACCGAGAGCAGCTTTGCGCTGAAACCACTCCGTGCAGCTTCACGTTTGAAATTATACTTGATAATCCAATGGAGCTACATCATGTTACGGTGGAAATATTGGATGTAAATGATCACTCACCAACATTTGCCAAAAGTGATATTAATCTTGAAATAAGCGAATCGGCCGCCCCCGGTGCTCGTTTTTTACTGGGAGGCGCAGATGATCCTGATGTAGGTGTAAACGCACTACAACATTATACTATATCACCTAACGATAATTTTATCCTGAAAGAAAAATCGCGCCCTGATGGAGTTA

Associated Phenotype:

Not determined

Allele Name:

sa38795

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:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000064535	Nonsense	747	819	1	1

Genomic Location (Zv9):

Chromosome 10 (position 21765788)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	21729046
GRCz10	10	21746504
GRCz11	10	21686427
GRCz11	10	21703885

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGACAATCTCGCTTCCTTTATCAGTCCAATCTGCCTGTTATTCCGTACTA[T/G]CCACCGCATTACGCAGACACAGGAGTCACTGGAACTCTGCCACACGGCTA

Long Flanking Sequence:

ACTGGCGCTTCAGTGGTGGCTGAGATTGTGCCTCGTGCTGCAGATGTTGGATATCTGGTCACTAAAGTGGTGGCTGTTGATGTGGACTCTGGTCAGAATGCCTGGCTCTCCTATAAACTCCAGAAAGCTCCAGACAGAGCGCTGTTTGAAGTGGGTTTACAGAATGGAGAATTAAGAACTGTGCGACAAGTCACTGATAAAGATGCTGTCAAACAAAGACTCACTGTTGTTGTGGAGGATAACGGACAGCCCTCTCGCTCAGCTGTGGTCTCCATTAACGTGGCAGTGGCTGACAGCTTTCCTGAAGTGCTGTCAGAGTTCACAGACTTTACGCATGAGAAACAATATAACGACAGCTTAACTTTTTATTTAGTTCTCGCACTGGCCGCTGTTTCTTTCCTATTCATCACTTGTGTGGTTGTGATAATATCAGTTAAAATCTACAGATGGAGACAATCTCGCTTCCTTTATCAGTCCAATCTGCCTGTTATTCCGTACTA[T/G]CCACCGCATTACGCAGACACAGGAGTCACTGGAACTCTGCCACACGGCTATAATTATGAAGTGTGCATGACGACTGACTCGAGGAAGAGTGACTGTAAGTTTTCTACACTCGGGGGTCAGAGTGTTTTAGTGGTGGACCCGAGTTTCAGTGAGACGATGCAGCGCGCAGTGAAGGAAAATCGTTGTTTAAAAGATGCAGAGGAGTGTCTGGAAACGGTAAGATCGCATTATATTAAACAATAATTATGATAAAAAATGTATTCTTGAATTGCACACAACAGTATCAGAATTCATTTGCAGAAAATAAAAGTGATGTATATAAAGCATTCATTTCTTAGTTTGAGTTGATTAATTATTCATCATAAACAAAAGTTAAAGTTCTAGAATTTATTGTTTTGTCCAAATATAAATAGAACATTGTTTGATCGATTTTAGTCCATGATTATTCCTAAAACGTAAAAAAAATGATTAGGACATTAGGACTCAATAATAATGATGAT

Associated Phenotype:

Not determined

Allele Name:

sa41645

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:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000064535	Nonsense	810	819	1	1

Genomic Location (Zv9):

Chromosome 10 (position 21765976)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	21743047
GRCz11	10	21700428

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCCGAGTTTCAGTGAGACGATGCAGCGCGCAGTGAAGGAAAATCGTTGTT[T/G]AAAAGATGCAGAGGAGTGTCTGGAAACGGTAAGATCGCATTATATTAAAC

Long Flanking Sequence:

AGTCACTGATAAAGATGCTGTCAAACAAAGACTCACTGTTGTTGTGGAGGATAACGGACAGCCCTCTCGCTCAGCTGTGGTCTCCATTAACGTGGCAGTGGCTGACAGCTTTCCTGAAGTGCTGTCAGAGTTCACAGACTTTACGCATGAGAAACAATATAACGACAGCTTAACTTTTTATTTAGTTCTCGCACTGGCCGCTGTTTCTTTCCTATTCATCACTTGTGTGGTTGTGATAATATCAGTTAAAATCTACAGATGGAGACAATCTCGCTTCCTTTATCAGTCCAATCTGCCTGTTATTCCGTACTATCCACCGCATTACGCAGACACAGGAGTCACTGGAACTCTGCCACACGGCTATAATTATGAAGTGTGCATGACGACTGACTCGAGGAAGAGTGACTGTAAGTTTTCTACACTCGGGGGTCAGAGTGTTTTAGTGGTGGACCCGAGTTTCAGTGAGACGATGCAGCGCGCAGTGAAGGAAAATCGTTGTT[T/G]AAAAGATGCAGAGGAGTGTCTGGAAACGGTAAGATCGCATTATATTAAACAATAATTATGATAAAAAATGTATTCTTGAATTGCACACAACAGTATCAGAATTCATTTGCAGAAAATAAAAGTGATGTATATAAAGCATTCATTTCTTAGTTTGAGTTGATTAATTATTCATCATAAACAAAAGTTAAAGTTCTAGAATTTATTGTTTTGTCCAAATATAAATAGAACATTGTTTGATCGATTTTAGTCCATGATTATTCCTAAAACGTAAAAAAAATGATTAGGACATTAGGACTCAATAATAATGATGATGATATTAATAATAATAATAATGATAAACTCTCGCCTTTAGGCGACGCGGTGGCGGGGGCAGTAGGTAGTGTTGTCGCCTCACAGCAAGAAGGTCGCTGGTTTGAGCCTCGGCTGGGTCAGTTGGCGTTTCTGTGTGGAGTTTGCATGTTTTCCCTGCGTTCGCATAGATTTCCACCGGGTGCTCCGGT

Associated Phenotype:

Not determined

ZMP

Alleles

Mutation Details

Mutation Details

Mutation Details