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System Message

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Gene Symbol: ALAS1
Assay Reference Genome Location: Chr.3:52209583 on build GRCh38
Cytoband: 3p21.2

Assay ID

Hs03469311_cn

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Catalog #	4400291
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Genomic Map
Assay Details
More Information

Assay Details

Target Gene Details

Entrez Gene ID:	211
Gene Name:	5'-aminolevulinate synthase 1
Gene Aliases:	ALAS, ALAS-H, ALAS3, ALASH, MIG4
Location:	Chr.3:52198083-52214327 on Build GRCh38
Assay Gene Location:	Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ALAS1	NM_000688.5			NP_000679.1
	NM_001304443.1			NP_001291372.1
	NM_001304444.1			NP_001291373.1
	NM_199166.2			NP_954635.1
	XM_011533477.1			XP_011531779.1
	XM_011533478.2			XP_011531780.1
	XM_017005873.1			XP_016861362.1
	AB063322.1			BAB93514.1
	AK293190.1
	AK300993.1
	AK312566.1
	AY260745.1			AAP94018.1
	BC011798.2			AAH11798.1
	CD014147.1
	X56351.1			CAA39794.1
	Y00451.1			CAA68506.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv834695	Chr.3:52165685 - 52366561 on Build GRCh38	Loss	GLYCTK-AS1 PPM1M GLYCTK MIR135A1 LOC101929054 TLR9 DNAH1 WDR82 TWF2 ALAS1 MIRLET7G
nsv508926	Chr.3:52121853 - 52256394 on Build GRCh38	Insertion	PPM1M POC1A LOC101929054 TLR9 WDR82 TWF2 ALAS1
nsv834694	Chr.3:52144967 - 52301805 on Build GRCh38	Gain	GLYCTK-AS1 PPM1M GLYCTK MIR135A1 POC1A LOC101929054 TLR9 WDR82 TWF2 ALAS1 MIRLET7G
nsv460537	Chr.3:52114217 - 52256534 on Build GRCh38	Loss	PPM1M POC1A LOC101929054 TLR9 WDR82 TWF2 ALAS1
nsv519445	Chr.3:51970301 - 52333916 on Build GRCh38	Gain+Loss	ACY1 RPL29 MIR135A1 POC1A LOC101929054 ABHD14A-ACY1 TLR9 DNAH1 WDR82 LINC00696 TWF2 ALAS1 MIRLET7G GLYCTK-AS1 PPM1M GLYCTK DUSP7 ABHD14B ABHD14A
nsv470572	Chr.3:52089297 - 52316196 on Build GRCh38	Loss	GLYCTK-AS1 PPM1M GLYCTK MIR135A1 POC1A LOC101929054 TLR9 DNAH1 WDR82 TWF2 ALAS1 MIRLET7G

More Information

Set Membership:

Intragenic

Intronic

Non-exonic

DGV Variation

Panther Classification:

Molecular Function -

Gene Ontology Categories:

Function(s) Process(es)

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