ZMP

wbscr22

Ensembl ID:

ENSDARG00000063596

ZFIN ID:

ZDB-GENE-070410-68

Description:

Williams Beuren syndrome chromosome region 22 protein [Source:RefSeq peptide;Acc:NP_001076348]

Human Orthologue:

WBSCR22

Human Description:

Williams Beuren syndrome chromosome region 22 [Source:HGNC Symbol;Acc:16405]

Mouse Orthologue:

Wbscr22

Mouse Description:

Williams Beuren syndrome chromosome region 22 Gene [Source:MGI Symbol;Acc:MGI:1913388]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa35787	Missense	Available for shipment	Available now

Mutation Details

Allele Name:

sa35787

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:

G > A

Consequence:

Missense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000093074	Missense	91	282	5	12

Genomic Location (Zv9):

Chromosome 15 (position 1753293)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	15	1793178
GRCz11	15	1758087

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCTGTTTTTTTATTTATTTATCATGGCGTCGTTGTTTTTGTTCAGATGTG[G/A]CCTTGGAGCGAGAGGTGGAGGGAGATCTCCTGCTGGGCGATATGGGTGAG

Long Flanking Sequence:

GAGAGGTTTAGGATGGTAATGTCATGTTTACCTGATTTAATCTGCTTGATTTCGTCAGCTGTGGCTCTGGCCTGAGTGGGGATTATCTGTCTGAAGCCGGACACTACTGGGTGGGTGTGGACATCAGCACCGCCATGCTGGGTAAATAATACATGCTTTTTCAACCCGTACACCCTGCTCACATCACATGCAAATGATTTTTGATATTTATTTTTTTCACATTTGAAAACATACTTAGCCACGCCCCTCTATCTGTCCGTTTCGTCAACAAACAGAAATGCCTACTTTACTACATCCAATCAGCTCACAGTAGAAAAAACAAGCCACGCCCACTGTTTGCTCATTTAATATTCTACTTCTCTAGGAACTGCTTCACAATATGAAACTGACAGCTTTCAGTTCATGCGGACTTTGGCCAAGTTGAAGGAGCGATTACTCAAATCTGTCTTGTCTGTTTTTTTATTTATTTATCATGGCGTCGTTGTTTTTGTTCAGATGTG[G/A]CCTTGGAGCGAGAGGTGGAGGGAGATCTCCTGCTGGGCGATATGGGTGAGGGAATGCCCTTCAGACCGGGCATGTTTGACGGGTGTATAAGGTATAATCTCTTCATGACTTGATGTAAAATCAGAATTCAGTTTGTTTATTTCTCTGCATCAGTGGTTCTCAAACTGTGATGCGTGTACCACTAGAGGTACGCAGGCTTACTTATAGTGGTACGCAGAGGAATCACTGAGTAATGAAAGAAAAAATATATTCAATTTTAATAATTTGATGCGTACGATAACACCGATGTGATCAGACATGGCTGTTTTCTTAAAGCGCTGTGCTTAGAATGTTTACTTTAGTGCATCGAGTCATTAGCTGCTAAAAATCAATCTAAATGAGGCAGAACAGGCCACAGACCAGCACCGGTCATAGATCAATTAGTACAATCCGCACAAATAAATTATTATTATCTGAGTCTGAACGATCCTTTATTTTGAAAAATCTTTTATTTTGAAAAA

Associated Phenotype:

Not determined