Hs03657574_cn

• Gene Symbol: LOC101927543
• Assay Reference Genome Location: Chr.8:120771210 on build GRCh38
• Cytoband: 8q24.12

Target Gene Details

• Entrez Gene ID: 101927543
• Gene Name: uncharacterized LOC101927543
• Gene Aliases: -
• Location: Chr.8:120761253-120776832 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101927543	NR_125419.1
	AK057448.1

Target Gene Details

• Entrez Gene ID: 6641
• Gene Name: syntrophin beta 1
• Gene Aliases: 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43
• Location: Chr.8:120535745-120812069 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNTB1	NM_021021.3			NP_066301.1
	XM_011517239.1			XP_011515541.1
	AF028828.1			AAB84253.1
	AK026095.1
	AK292655.1
	BC098573.1			AAH98573.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1016172	Chr.8:120667350 - 120917676 on Build GRCh38	Loss	LOC101927543 SNTB1
esv2759640	Chr.8:120753461 - 120816679 on Build GRCh38	Gain	LOC101927543 SNTB1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

muscle contraction

Function(s)

actin binding
structural molecule activity
protein binding
calmodulin binding
PDZ domain binding