Busch Lab

ZMP

LOC567794

Ensembl ID:
ENSDARG00000042418
Human Orthologue:
WBSCR17
Human Description:
Williams-Beuren syndrome chromosome region 17 [Source:HGNC Symbol;Acc:16347]
Mouse Orthologue:
Wbscr17
Mouse Description:
Williams-Beuren syndrome chromosome region 17 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:213759

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa22607 Nonsense Available for shipment Available now
sa42513 Nonsense Mutation detected in F1 DNA Not yet available
sa35841 Nonsense Mutation detected in F1 DNA Not yet available
sa35842 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa22607
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:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062191 Nonsense 303 617 6 12
Genomic Location (Zv9):
Chromosome 15 (position 15554106)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 16599069
GRCz11 15 16535091
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGCCCTCCATAGATAACATCAAAGATGAGACGTTTGAACTGGAACGCTA[T/G]GAGAACTCAGGCCACGGCTATAACTGGGAGCTCTGGTGTATGTATATCAG
Long Flanking Sequence:
CCATAGCATTCGTTTAAAGACAAAATGCAGCCATACACACTTTTGGCTACATCATTCGCGATCTTCAGAAATATAAATAGGGCTACGTTTTCAGAATGAGCCCAAGTTGTATATATCTGACCACTAATGTAGTTTCTCTAATCAGATCATGAATCATGCACACTAATATCTATATTTAGTGCTGTTCAGATGAAACAGATTTTAATGGCACGTGTAAACAGGGTCTTGATGCATGTACCCTCTGTAGGTCCATCTAATTGGCTGATGTGAGGCGAGAAACCAGCCAACACATTCTGAAGCCAGGATTAGATTTAGCTTCACAGCACAGTTGAAGAAGTGTTATTAGAAGTGTGCTATACAGTTTTGCTTATAATGATCTAACCTCTGCATCCCCTTGTCAGGGCTGAACCAGTTCTGTCTAGAATCAAGGAGAACCACAAGAGGATCATCTTGCCCTCCATAGATAACATCAAAGATGAGACGTTTGAACTGGAACGCTA[T/G]GAGAACTCAGGCCACGGCTATAACTGGGAGCTCTGGTGTATGTATATCAGCCCACCCAAACAGTGGTGGGATGAAGGGGACACTTCTGCACCTATCAGGTATGGTCCTACTGAACCTATTATGTTAGATCTTTCGTTCTGAACGCTTGCAATTCACATTATTCATACTTTGGTTTAGTAATTTGTCATGGGTGACCAGGTGGCAAGGTTTCACATTGTATGTTTATGAACATTAGCTTTTGGCCCAATTCCATCGTATTTTTAAAAAAGCATGAACATGAACACCATTTTGAATATATTAAAACATGTGCCTGTTTTTGTAAAAATTGGTAATAATGACAAAGATTATAATTTGTGCATCTCTTGACTTCCGTGGGCAGCCATGTTGCCGTTATAGCTAGTGTATTCTTGGAAATTTTTGTACCCCTTGGTTTCGAGTGTGGTCCTGGAAAATTTCAGTTTCAAGGGCTATCTAATCCTTCTCCTTAACCATACGCCTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42513
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
ENSDART00000062191 Nonsense 351 617 7 12
Genomic Location (Zv9):
Chromosome 15 (position 15557484)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 16602447
GRCz11 15 16538469
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTAGGACGCCTGCAATGATAGGCTGCTCTTTTGTGGTAAACCGGGAATA[C/A]TTTGGGGATTTGGGCCTACTGGACGCAGGGATGGATGTGTATGGAGGCGA
Long Flanking Sequence:
TCAACTAAAATCAATAAATAAAGAAGTAAAAACACGATGAATAAAATATCAGTAATTTCTCCATCAAACAGTAAACACATTTACATATAAATACAGCATTAAAATGTAACAGAGGCTAGCTAGTGAAGTGCTGTGCAGGTAAACCTCACTCCTCCGACCTCTAAAGGTGCTCCAGCGACAGACGCTAGAGGCTATTGGTCTTTAGCTTCCTTGTTAGAGCAACCGACTTCCATAAAAAAGAATTGCTGGTTCGATCTCTGCTCAGACTGGGTTTCGTGCAGTAGCACCGGGTTACAAAAATAATACAAGATATAACATATTTTAACTGTTGTCAATATTTAATATTTTCATTTAGTTATACAGATTTGTCAGTATTGACATTCATTATTTGTTTATGAATTATTCAATAAAATATAAAGCAGCATTAGAAAATGCTAAAAATGTTTATTTTTTAGGACGCCTGCAATGATAGGCTGCTCTTTTGTGGTAAACCGGGAATA[C/A]TTTGGGGATTTGGGCCTACTGGACGCAGGGATGGATGTGTATGGAGGCGAAAATATAGAGCTGGGAATCAGGGTTAGTATGCCACCCACATCCCACTGCTAAAGTAGAGCATTCGCAACTTAGCCTCACCTACGCTCACTCCATACAACCTTCATTTGATAGGTATTTTTGACTTTTTATGTTTAAAATTATGCCAGAACTGATTTTTTTTACTGGCATATGTTTTGAAACCCAGGTTTGGTTGTGTGGGGGCAGCATGGAAGTCCTGCCTTGTTCCAGAGTGGCTCATATTGCTCGAACAAAGAAGCCCTACCACAGTAACATTGCCTTTCACACAAGACGCAATGCTCTTCGAGTTGCGGAAGTGTGGATGGACCAGTACAAATCTAATGTCTATTTGGCATGGAACCTACCGATGAAGGTAAGCAATAAAAGGTGGCAAAGAATGAAACTCTGGATATATCTAGGCACAGCTTGATAATAAGAGTTCAGTACATAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35841
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062191 Nonsense 377 617 8 12
Genomic Location (Zv9):
Chromosome 15 (position 15557725)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 16602688
GRCz11 15 16538710
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCCAGAACTGATTTTTTTTACTGGCATATGTTTTGAAACCCAGGTTTG[G/A]TTGTGTGGGGGCAGCATGGAAGTCCTGCCTTGTTCCAGAGTGGCTCATAT
Long Flanking Sequence:
ATTGCTGGTTCGATCTCTGCTCAGACTGGGTTTCGTGCAGTAGCACCGGGTTACAAAAATAATACAAGATATAACATATTTTAACTGTTGTCAATATTTAATATTTTCATTTAGTTATACAGATTTGTCAGTATTGACATTCATTATTTGTTTATGAATTATTCAATAAAATATAAAGCAGCATTAGAAAATGCTAAAAATGTTTATTTTTTAGGACGCCTGCAATGATAGGCTGCTCTTTTGTGGTAAACCGGGAATACTTTGGGGATTTGGGCCTACTGGACGCAGGGATGGATGTGTATGGAGGCGAAAATATAGAGCTGGGAATCAGGGTTAGTATGCCACCCACATCCCACTGCTAAAGTAGAGCATTCGCAACTTAGCCTCACCTACGCTCACTCCATACAACCTTCATTTGATAGGTATTTTTGACTTTTTATGTTTAAAATTATGCCAGAACTGATTTTTTTTACTGGCATATGTTTTGAAACCCAGGTTTG[G/A]TTGTGTGGGGGCAGCATGGAAGTCCTGCCTTGTTCCAGAGTGGCTCATATTGCTCGAACAAAGAAGCCCTACCACAGTAACATTGCCTTTCACACAAGACGCAATGCTCTTCGAGTTGCGGAAGTGTGGATGGACCAGTACAAATCTAATGTCTATTTGGCATGGAACCTACCGATGAAGGTAAGCAATAAAAGGTGGCAAAGAATGAAACTCTGGATATATCTAGGCACAGCTTGATAATAAGAGTTCAGTACATAGAAAATGACATACTGTAAGTCTTAAACATCATTGTTTTCTTGTTCACTTCCAAATCCTGTAATTGTAAAATCCTGATGTTAAACAGGCAGATCAGAACAAAATACAGAATCATGAATATGCATGCCATAGACTGTTTGATTGGCCACAACTTTTCCTGAGATTGCAGTGATTATAATGTTTCCATTATTTTTTATTTAATCTATTATACTTACTTCGTATGTCTGACTTTTATTTTGAAAACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35842
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062191 Nonsense 415 617 8 12
Genomic Location (Zv9):
Chromosome 15 (position 15557837)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 16602800
GRCz11 15 16538822
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAAGCCCTACCACAGTAACATTGCCTTTCACACAAGACGCAATGCTCTT[C/T]GAGTTGCGGAAGTGTGGATGGACCAGTACAAATCTAATGTCTATTTGGCA
Long Flanking Sequence:
AGTTATACAGATTTGTCAGTATTGACATTCATTATTTGTTTATGAATTATTCAATAAAATATAAAGCAGCATTAGAAAATGCTAAAAATGTTTATTTTTTAGGACGCCTGCAATGATAGGCTGCTCTTTTGTGGTAAACCGGGAATACTTTGGGGATTTGGGCCTACTGGACGCAGGGATGGATGTGTATGGAGGCGAAAATATAGAGCTGGGAATCAGGGTTAGTATGCCACCCACATCCCACTGCTAAAGTAGAGCATTCGCAACTTAGCCTCACCTACGCTCACTCCATACAACCTTCATTTGATAGGTATTTTTGACTTTTTATGTTTAAAATTATGCCAGAACTGATTTTTTTTACTGGCATATGTTTTGAAACCCAGGTTTGGTTGTGTGGGGGCAGCATGGAAGTCCTGCCTTGTTCCAGAGTGGCTCATATTGCTCGAACAAAGAAGCCCTACCACAGTAACATTGCCTTTCACACAAGACGCAATGCTCTT[C/T]GAGTTGCGGAAGTGTGGATGGACCAGTACAAATCTAATGTCTATTTGGCATGGAACCTACCGATGAAGGTAAGCAATAAAAGGTGGCAAAGAATGAAACTCTGGATATATCTAGGCACAGCTTGATAATAAGAGTTCAGTACATAGAAAATGACATACTGTAAGTCTTAAACATCATTGTTTTCTTGTTCACTTCCAAATCCTGTAATTGTAAAATCCTGATGTTAAACAGGCAGATCAGAACAAAATACAGAATCATGAATATGCATGCCATAGACTGTTTGATTGGCCACAACTTTTCCTGAGATTGCAGTGATTATAATGTTTCCATTATTTTTTATTTAATCTATTATACTTACTTCGTATGTCTGACTTTTATTTTGAAAACCGCACATATAACTTAGCTTTTACCGTGATTTCTCTGGAGTGAAAATATTCGATTAAAACTTGTCTGTTTATGCCTAAGTTGATGTTAATAACTGCCTGTGTTTTCATATACAT
Associated Phenotype:
Not determined