ZMP

SV2C (2 of 2)

Ensembl ID:

ENSDARG00000086965

Description:

synaptic vesicle glycoprotein 2C [Source:HGNC Symbol;Acc:30670]

Human Orthologue:

SV2C

Human Description:

synaptic vesicle glycoprotein 2C [Source:HGNC Symbol;Acc:30670]

Mouse Orthologue:

Sv2c

Mouse Description:

synaptic vesicle glycoprotein 2c Gene [Source:MGI Symbol;Acc:MGI:1922459]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa29490	Nonsense	Mutation detected in F1 DNA	Not yet available
sa37201	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa29490

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000128173	Nonsense	114	301	3	7

Genomic Location (Zv9):

Chromosome 21 (position 2171406)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	1820618
GRCz11	21	1846442

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GTTTGTCTGTGTTTGTGTGCAGGCTGGAGCTTCAGTATGGGCTCAGCGTA[T/G]CAGTTCCACAGCTGGCGTGTGTTTGTGGTGGTCTGCGCTTTTCCCTGTGT

Long Flanking Sequence:

CCCTCCAGCGTGTCCTGGGTCTTCTCCGAGGCCTCTTCCTGGTGAGACATGCCTGGAACACCTCCCTGGGTAGGCGTCCAAGAGGCACCCGAAACATGCCCGAGCCACCTCAGCTGACTTCTCTCAAAGTGGAGGAGCAGCGGCTCTACTCTGAGCTCCCCCCCGGGTGACAGAGCTTCTATAAGGATGTGCCCTGCCACCCTGCAGTAGTTTACACTACTGTTAAAAAAATTGACATTGGTTAAGATATTGTTTTTCTATATGCGATATTAAACCCAGATGTCCCTAAATGTCTGCCCACAAAAGGCCTCATGTATCGCTAATTAATCCTGGTCTTAAAAGACTACTGACTCTCTGAGTCTTCACAGCAGATGCTTCAGTGTTGGTGCAGAAACGGCTCTCACTGATGGACTGAACTCTTCTGTATGGGAATATATTTGACATGTCTTGGTTTGTCTGTGTTTGTGTGCAGGCTGGAGCTTCAGTATGGGCTCAGCGTA[T/G]CAGTTCCACAGCTGGCGTGTGTTTGTGGTGGTCTGCGCTTTTCCCTGTGTCTCTGCGGTGGTGGCGCTCACATTCATGCCCGAGAGCCCTCGCTTCTACCTGGAGGTAATGATAAACTGGGTCATTTCAGTTTCTGTACAGTTAAAGTCAAAATTAATAATGTTTGACAGATTCAGGAATTTTTCACAGTATTTCCTTTAATATTTGTTCTTGTGGAGAAAGGCTTATTTGTTTTATTTCAGCTAGAATAAAAGCAGTTTTTATTTTTTAAACCCATTTTAAGGTCGATATTATCAGCCCCCATTAAGCTATATTTGTTTTGGATTGTCTACAGAACAAACCACTGTTATATAATGACTTGCCGGATTACTTTACCCCAATGATGATTAGGATTCTCTGTAAAGATGCTTTTAATCATTGTATGAAAGCAGCTCTTTAAATAAATCTGTGTGTGTGTGCGTGCGTGCGTGCATGCGCGTGTGTGTGCGCGAACGTGTGTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa37201

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000128173	Essential Splice Site	246	301	6	7

Genomic Location (Zv9):

Chromosome 21 (position 2177466)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	1826678
GRCz11	21	1852502

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AAGGACAACACAGTGAAGTTGGCTATAGTTTGGTTCTCTCTGTCATTTGG[G/A]TGAGTTGTTTGACACACACACACATGCGCACACACACGCATGCACGCACA

Long Flanking Sequence:

ATTTTATCATTCCATATTTAATAATTATAATTTAATAATTATAATTTTATTAAATCTAATAATTAGATTTTTTTTTAAATCAAAGCTCAAAAACAAACCTTAGAGCAAACCTGATTGCTGACATGAAGTAAATAATTGTAAAGTTTGCAGTTTTAAAGATAAAAGCGTCTGCATAAACACCTCATTTTAGAAAAAAAAGTTACTTTAATCTCCAGGTGGAACTCAGACCAAGCAAATGTTCTGCTGATTCTGCTGATCTTTGCCTTTGCATCTCTTAATGCTGTGAAAAAATAAAATCATTGTACATTAATGCAGGTTTTTTTTTTTTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGATCTGGCTGACGTTCCTCAAGTGCTGGGATTATCCTATCAAGGACAACACAGTGAAGTTGGCTATAGTTTGGTTCTCTCTGTCATTTGG[G/A]TGAGTTGTTTGACACACACACACATGCGCACACACACGCATGCACGCACACACACATTATGACCAGTAGAACCACAGTCCATTCTGTTTTACTGTTTTACATTCTGTTCTTTTTTATTCTGTTTTGCTGTGTTCAATTAAATTCTGTTCTTTTCTGTTTTACTGTTCCATTCTATTTGTTTCATTCTGTTACTGTGTTCCATTTTTTTACTATGTTCTGTGTTTTTCTGTGTTCTGTTCTGTTACTGTGTGTCATTATATCCTGTTCTGTTACTGTGTTCTATTCTTTTACTGTGTTTTATTCTGTTCTGCTCTGTTCTGTTCTATTCTTGTCTGTTCCATTCTGTTACCATGTTCCATTCCATTTTATTCCATTCTGTTCTTGTGTTCCATTCTGTTACTGTGTTCCATTATGTTATACTCTGTTATGTTCTGTTACTGTTCCATTCTGTTCTGTCACTGTGTTCCATTATTTTACTGAGTTCCATTCTGTTCTGCTCT

Associated Phenotype:

Not determined