Hs06998843_cn

• Gene Symbol: SDS
• Assay Reference Genome Location: Chr.12:113395320 on build GRCh38
• Cytoband: 12q24.13

Target Gene Details

• Entrez Gene ID: 10993
• Gene Name: serine dehydratase
• Gene Aliases: SDH
• Location: Chr.12:113392445-113403887 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SDS	NM_006843.2			NP_006834.2
	AK292760.1
	BC020750.1			AAH20750.1
	BG566257.1
	J05037.1			AAA36604.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519540	Chr.12:113042705 - 113459599 on Build GRCh38	Gain+Loss	RITA1 IQCD SLC8B1 TPCN1 CFAP73 SDSL SDS RASAL1 MIR7106 DDX54 DTX1 MIR6762 PLBD2
esv3892265	Chr.12:113099321 - 113527932 on Build GRCh38	Gain	RITA1 IQCD SLC8B1 TPCN1 CFAP73 SDSL SDS RASAL1 MIR7106 DDX54 LHX5-AS1 MIR6762 PLBD2 LHX5
esv3630792	Chr.12:112988703 - 113838810 on Build GRCh38	Gain	RITA1 IQCD OAS2 LINC01234 RBM19 SLC8B1 TPCN1 CFAP73 SDSL SDS RASAL1 MIR7106 DDX54 DTX1 LHX5-AS1 MIR6762 PLBD2 LHX5

More Information

Additional Information:

For this assay, SNP(s) [rs142979684] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

dehydratase

Gene Ontology Categories:

Process(es)

gluconeogenesis
L-serine catabolic process
pyruvate biosynthetic process

Function(s)

L-serine ammonia-lyase activity
L-threonine ammonia-lyase activity
pyridoxal phosphate binding
protein homodimerization activity