Hs02234385_cn

• Gene Symbol: SDSL
• Assay Reference Genome Location: Chr.12:113436816 on build GRCh38
• Cytoband: 12q24.13

Target Gene Details

• Entrez Gene ID: 113675
• Gene Name: serine dehydratase like
• Gene Aliases: SDH 2, SDS-RS1, TDH, cSDH
• Location: Chr.12:113422265-113438277 on Build GRCh38
• Assay Gene Location: Overlaps Exon 10 - Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SDSL	NM_001304993.1			NP_001291922.1
	NM_138432.3			NP_612441.1
	XM_005253831.4			XP_005253888.1
	XM_011537846.2			XP_011536148.1
	XM_017018763.1			XP_016874252.1
	AF134473.1			AAP97250.1
	BC009849.2			AAH09849.1
	BC091479.1			AAH91479.1

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	MIR7106 SDSL PLBD2 RASAL1 RITA1 SLC8B1 DTX1 MIR6762 DDX54 CFAP73 TPCN1 IQCD SDS
esv3892265	Chr.12:113099321 - 113527932 on Build GRCh38	Gain	MIR7106 SDSL PLBD2 RASAL1 RITA1 SLC8B1 LHX5 LHX5-AS1 MIR6762 DDX54 CFAP73 TPCN1 IQCD SDS
esv3630792	Chr.12:112988703 - 113838810 on Build GRCh38	Gain	MIR7106 SDSL PLBD2 RASAL1 RITA1 SLC8B1 LHX5 OAS2 DTX1 LHX5-AS1 MIR6762 DDX54 RBM19 CFAP73 TPCN1 IQCD LINC01234 SDS

More Information

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

Panther Classification:

Molecular Function -

dehydratase

Gene Ontology Categories:

Process(es)

cellular amino acid metabolic process
biological_process

Function(s)

molecular_function
L-serine ammonia-lyase activity
L-threonine ammonia-lyase activity
pyridoxal phosphate binding