scamp2l

Ensembl ID:
ENSDARG00000017010
ZFIN ID:
ZDB-GENE-030131-6432
Description:
secretory carrier membrane protein 2, like isoform 2 [Source:RefSeq peptide;Acc:NP_957488]
Human Orthologue:
SCAMP2
Human Description:
secretory carrier membrane protein 2 [Source:HGNC Symbol;Acc:10564]
Mouse Orthologue:
Scamp2
Mouse Description:
secretory carrier membrane protein 2 Gene [Source:MGI Symbol;Acc:MGI:1346518]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa16241 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa16241
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024076 Essential Splice Site 279 325 8 9
ENSDART00000140702   None 143 None 5
Genomic Location (Zv9):
Chromosome 7 (position 58365976)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 56801302
KASP Assay ID:
2259-9598.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGGATTYTTCACTGTCAATGCYGTRTTCTCTGTTATCTTACTGAAAATG[G/A]TAAGTTGRTTACAGTTGTGGCCATGTCTGCATTTGTTTATYATTTTGCTA
Associated Phenotype:
Not determined

GWAS

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

  • Caffeine consumption: Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. (View Study)

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

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