Hs00755047_cn

• Gene Symbol: SNTA1
• Assay Reference Genome Location: Chr.20:33408498 on build GRCh38
• Cytoband: 20q11.21

Target Gene Details

• Entrez Gene ID: 6640
• Gene Name: syntrophin alpha 1
• Gene Aliases: LQT12, SNT1, TACIP1, dJ1187J4.5
• Location: Chr.20:33407957-33443892 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNTA1	NM_003098.2	8	1799	NP_003089.1
	XM_005260517.1	8	1757	XP_005260574.1
	XM_011529007.1	8	1792	XP_011527309.1
	XM_011529008.1	8	1789	XP_011527310.1
	AK095942.1	8	1359
	AK291994.1	8	1670
	AK301800.1	8	1305
	BC026215.2	8	1639	AAH26215.1
	S81737.1	8	1659	AAB36398.1
	U40571.1	8	1564	AAC50448.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1064413	Chr.20:33348381 - 33599978 on Build GRCh38	Gain	CBFA2T2 SNTA1 CDK5RAP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of heart rate
muscle contraction
regulation of ventricular cardiac muscle cell membrane repolarization
ventricular cardiac muscle cell action potential
negative regulation of peptidyl-cysteine S-nitrosylation
regulation of sodium ion transmembrane transport

Function(s)

actin binding
structural molecule activity
protein binding
calmodulin binding
sodium channel regulator activity
PDZ domain binding
ion channel binding
nitric-oxide synthase binding
ATPase binding