git2a

Ensembl ID:
ENSDARG00000061915
ZFIN ID:
ZDB-GENE-060526-267
Description:
ARF GTPase-activating protein GIT2 [Source:RefSeq peptide;Acc:NP_001119925]
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 are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa2250 Nonsense F2 line generated During 2017
sa33567 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa2250
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000088881 Nonsense 192 750 6 19
Genomic Location (Zv9):
Chromosome 5 (position 21698884)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 19411756
KASP Assay ID:
554-3327.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGAAAGGGAACACTCCGCTGCACATCGCGGCTAAAGCAGGTCAAGTGTGC[C/T]AGGCTGAGCTTCTTTGCGTTTATGGGGCAGATCCTGGAGCTCCAGACTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33567
Current 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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000088881 Nonsense 495 750 15 19
Genomic Location (Zv9):
Chromosome 5 (position 21687162)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 19400034
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAAAGCGAGAACAGCTCTCTGAGGCGGCAGGTCTCCGCTCAACAGCCCTA[T/A]CAGGCCCCCGGCGGCCCTGACCATCCCAATCCCTCCAGTCCCTCCTCCTG
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/.)

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