Hs06102460_cn

• Gene Symbol: SAR1B
• Assay Reference Genome Location: Chr.5:134621563 on build GRCh38
• Cytoband: 5q31.1

Target Gene Details

• Entrez Gene ID: 51128
• Gene Name: secretion associated Ras related GTPase 1B
• Gene Aliases: ANDD, CMRD, GTBPB, SARA2
• Location: Chr.5:134601149-134632843 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SAR1B	NM_001033503.2			NP_001028675.1
	NM_016103.3			NP_057187.1
	XM_017009521.1			XP_016865010.1
	AF087850.1			AAP97161.1
	AF092130.1			AAD40372.1
	AK223452.1			BAD97172.1
	AL512710.1			CAC21652.1
	AL710660.1
	BC002847.2			AAH02847.1
	BC093034.1			AAH93034.1
	CD048852.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv520381	Chr.5:134523918 - 134643239 on Build GRCh38	Gain+Loss	SAR1B JADE2
nsv830491	Chr.5:134557253 - 134724800 on Build GRCh38	Loss	SEC24A SAR1B JADE2

More Information

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

Gene Ontology Categories:

Process(es)

antigen processing and presentation of peptide antigen via MHC class I
intracellular protein transport
ER to Golgi vesicle-mediated transport
antigen processing and presentation of exogenous peptide antigen via MHC class II
COPII vesicle coating

Function(s)

GTPase activity
GTP binding
metal ion binding