LOC568033

Ensembl ID:
ENSDARG00000059945
Human Orthologue:
SV2A
Human Description:
synaptic vesicle glycoprotein 2A [Source:HGNC Symbol;Acc:20566]
Mouse Orthologue:
Sv2a
Mouse Description:
synaptic vesicle glycoprotein 2 a Gene [Source:MGI Symbol;Acc:MGI:1927139]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa7813 Essential Splice Site Mutation detected in F1 DNA During 2014
sa19153 Essential Splice Site Mutation detected in F1 DNA During 2014
sa5627 Essential Splice Site F2 line generated During 2014
sa2868 Essential Splice Site F2 line generated During 2014

Mutation Details

Allele Name:
sa7813
Current Status:
Mutation detected in F1 DNA
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 2014.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083919 Essential Splice Site 311 734 3 12
ENSDART00000083919 Essential Splice Site 311 734 3 12
Genomic Location:
Chromosome 16 (position 49236570)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAGGAATCTACGCMGCCGCCATGGCCTGGGCCATCATTCCTCATTACGG[T/G]AACCAGCACATGAACATCACGGTTAACTGATCTTAGCCTGGTTAATGAAR
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19153
Current Status:
Mutation detected in F1 DNA
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 2014.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083919 Essential Splice Site 311 734 3 12
ENSDART00000083919 Essential Splice Site 311 734 3 12
Genomic Location:
Chromosome 16 (position 49236570)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGAGGAATCTACGCCGCCGCCATGGCCTGGGCCATCATTCCTCATTACGG[T/G]AACCAGCACATGAACATCACGGTTAACTGATCTTAGCCTGGTTAATGAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5627
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 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083919 Essential Splice Site 452 734 7 12
ENSDART00000083919 Essential Splice Site 452 734 7 12
Genomic Location:
Chromosome 16 (position 49249824)
KASP Assay ID:
554-3143.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCAGGATCACCTACATGATGATGGCCGTGTGGTTTTCCATGTCCTTCAGG[T/C]ACACTATGCAATATTTRGCTTCCAGCAGCTTCCAGTGATATTTTTCCCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2868
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 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083919 Essential Splice Site 452 734 7 12
ENSDART00000083919 Essential Splice Site 452 734 7 12
Genomic Location:
Chromosome 16 (position 49249824)
KASP Assay ID:
554-3143.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCAGGATCACCTACATGATGATGGCCGTGTGGTTTTCCATGTCCTTCAGG[T/C]ACACTATGCAATATTTRGCTTCCAGCAGCTTCCAGTGATATTTTTCCCTC
Associated Phenotype:
Not determined

GWAS

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

  • Height: Many sequence variants affecting diversity of adult human height. (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/2x0hfszn