git2b

Ensembl ID:
ENSDARG00000042791
ZFIN ID:
ZDB-GENE-070112-2192
Description:
G protein-coupled receptor kinase interacting ArfGAP 2 [Source:RefSeq peptide;Acc:NP_001073657]
Human Orthologue:
GIT2
Human Description:
G protein-coupled receptor kinase interacting ArfGAP 2 [Source:HGNC Symbol;Acc:4273]
Mouse Orthologue:
Git2
Mouse Description:
G protein-coupled receptor kinase-interactor 2 Gene [Source:MGI Symbol;Acc:MGI:1347053]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa13702 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa13702
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
ENSDART00000062786 Essential Splice Site 366 736 12 23
ENSDART00000062795 Essential Splice Site 366 736 12 22
ENSDART00000113582 Essential Splice Site 366 736 12 20
Genomic Location:
Chromosome 10 (position 41663017)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AACTGATGCCAAACGRCGTCAGCTGGGGAATTCTYCTGATAATGTTAAAG[G/A]TGAGGWACATCTTYRATTACTCTCTTRTYGTTAAAGGAATAGTTCACCCA
Associated Phenotype:
Not determined

GWAS

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

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

Register

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* quick link - http://q.sanger.ac.uk/g48436dl