rs77672173

This variant is located in the SLC18A3 gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

not provided; Congenital myasthenic syndrome 21

View on ClinVar →

About SLC18A3

This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]

View all SLC18A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…