jag1b

Ensembl ID:
ENSDARG00000013168
ZFIN ID:
ZDB-GENE-011128-4
Description:
Protein jagged-1b [Source:UniProtKB/Swiss-Prot;Acc:Q90Y54]
Human Orthologue:
JAG1
Human Description:
jagged 1 [Source:HGNC Symbol;Acc:6188]
Mouse Orthologue:
Jag1
Mouse Description:
jagged 1 Gene [Source:MGI Symbol;Acc:MGI:1095416]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa17080 Essential Splice Site Available for shipment Available now
sa18567 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa17080
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019323 Essential Splice Site 24 1213 1 26
Genomic Location:
Chromosome 13 (position 35561110)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATTTTCTGCTTTTTACCTTCATGCCTTTTTGTTATGCTTGCGGACGACGG[T/C]GAGTCTTGATTTAAGTCATTAMATAGTTTGGGGTAAWTTGTTTAARAGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18567
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019323 Essential Splice Site 891 1213 22 26
Genomic Location:
Chromosome 13 (position 35603208)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGACTGCAACATTTGTCAGTGCCAAAATGGAAGGATTCATTGCACAATG[G/A]TACATASCTGACACTTCATCATATTCCTGAGGCATTTAGTARCATTTCTC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Blood pressure: Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (View Study)
  • Bone mineral density: Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. (View Study)
  • Bone mineral density: Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (View Study)
  • Cardiac hypertrophy: Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. (View Study)
  • Systolic blood pressure: Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/n1rqkat4