Hs01547724_cn

• Gene Symbol: SARDH
• Assay Reference Genome Location: Chr.9:133663897 on build GRCh38
• Cytoband: 9q34.2

Target Gene Details

• Entrez Gene ID: 1757
• Gene Name: sarcosine dehydrogenase
• Gene Aliases: BPR-2, DMGDHL1, SAR, SARD, SDH
• Location: Chr.9:133663074-133739958 on Build GRCh38
• Assay Gene Location: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SARDH	NM_001134707.1	21	2883	NP_001128179.1
	NM_007101.3	21	3042	NP_009032.2
	XM_017014367.1			XP_016869856.1
	AF095735.2	21	3007	AAD53398.2
	AF129265.1	17	2034	AAD33412.1
	AF162428.1			AAD43585.1
	AK093794.1	9	1933
	AK223402.1	21	2929	BAD97122.1
	AK291211.1	21	2877
	AK298348.1	21	2926
	AK316494.1
	BC136363.1	21	2860
	BC136364.1	21	2860
	BC144035.1	21	2878

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv998446	Chr.9:133660557 - 133670710 on Build GRCh38	Deletion	SARDH
esv2739138	Chr.9:132727483 - 135521553 on Build GRCh38	Deletion	LOC101928193 LINC00094 VAV2 SURF2 PPP1R26-AS1 CEL FCN2 LOC101928525 C9orf62 ADAMTSL2 SARDH COL5A1 SNORD24 MIR3689E FAM163B LOC100130548 SNORD141A RNU6ATAC ABO COL5A1-AS1 BRD3 LOC401557 SNORD36C MIR3689F LCN1 SNORD36B GTF3C5 STKLD1 LOC101448202 SLC2A6 LOC100996574 GFI1B RALGDS MIR3689A MED22 MIR6877 REXO4 RPL7A SPACA9 DBH-AS1 MIR4669 GBGT1 MRPS2 C9orf116 SURF1 SNORD36A OLFM1 PPP1R26 OBP2B MIR548AW LOC105376306 DBH RXRA MIR3689D1 ADAMTS13 FCN1 MIR3689B CELP WDR5 MIR3689C AK8 MIR3689D2 TMEM8C SURF4 TSC1 CACFD1 SURF6
nsv615641	Chr.9:133660184 - 133668909 on Build GRCh38	Loss	SARDH
nsv951800	Chr.9:133627979 - 133696678 on Build GRCh38	Deletion	DBH-AS1 SARDH DBH
esv3576711	Chr.9:133582804 - 133778331 on Build GRCh38	Gain	FAM163B VAV2 DBH-AS1 SARDH DBH

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

tetrahydrofolate interconversion
choline catabolic process
oxidation-reduction process

Function(s)

folic acid binding
sarcosine dehydrogenase activity
flavin adenine dinucleotide binding