Hs00121257_cn

• Gene Symbol: ALG1
• Assay Reference Genome Location: Chr.16:5073234 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 56052
• Gene Name: ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
• Gene Aliases: CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1
• Location: Chr.16:5071809-5087379 on Build GRCh38
• Assay Gene Location: Overlaps Exon 4 - Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ALG1	NM_019109.4			NP_061982.3
	XM_011522565.1			XP_011520867.1
	XM_017023457.1			XP_016878946.1
	XM_017023458.1			XP_016878947.1
	AB019038.1			BAA90748.1
	AK075373.1			BAC11576.1
	AK298144.1
	AK311475.1
	AY359073.1			AAQ89432.1
	BC004402.1			AAH04402.1
	BC031095.1			AAH31095.1
	BM767933.1
	DA879477.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1722	Chr.16:5031097 - 5075947 on Build GRCh38	Deletion	NAGPA NAGPA-AS1 C16orf89 ALG1
nsv1042612	Chr.16:4965694 - 5150514 on Build GRCh38	Loss	SEC14L5 NAGPA NAGPA-AS1 C16orf89 EEF2KMT ALG1
nsv428318	Chr.16:5011594 - 5374828 on Build GRCh38	Gain	SEC14L5 NAGPA NAGPA-AS1 C16orf89 EEF2KMT ALG1 RBFOX1
esv3637713	Chr.16:4957958 - 5307305 on Build GRCh38	Gain	SEC14L5 NAGPA NAGPA-AS1 C16orf89 EEF2KMT ALG1 RBFOX1
esv25186	Chr.16:4858500 - 5142800 on Build GRCh38	Gain	SEC14L5 NAGPA UBN1 NAGPA-AS1 C16orf89 PPL EEF2KMT ALG1
nsv1052766	Chr.16:5041397 - 5146885 on Build GRCh38	Loss	NAGPA-AS1 C16orf89 EEF2KMT ALG1
esv3637714	Chr.16:4958035 - 5079276 on Build GRCh38	Gain	SEC14L5 NAGPA NAGPA-AS1 C16orf89 ALG1
esv2422516	Chr.16:4775920 - 5160979 on Build GRCh38	Deletion	SEC14L5 SMIM22 NAGPA UBN1 NAGPA-AS1 GLYR1 C16orf89 SEPT12 PPL EEF2KMT ALG1 ROGDI
nsv482188	Chr.16:5071809 - 5087377 on Build GRCh38	Gain	EEF2KMT ALG1
nsv1046986	Chr.16:4049000 - 5555721 on Build GRCh38	Gain	C16orf89 SEPT12 C16orf96 HMOX2 LINC01569 SEC14L5 UBALD1 NAGPA-AS1 GLYR1 C16orf71 DNAJA3 PPL TFAP4 NAGPA GLIS2 ZNF500 MGRN1 EEF2KMT ANKS3 NMRAL1 PAM16 ADCY9 SMIM22 UBN1 SRL MIR6769A GLIS2-AS1 CORO7-PAM16 VASN LOC105371063 CDIP1 ALG1 ROGDI NUDT16L1 CORO7 RBFOX1
esv34300	Chr.16:5005938 - 5322534 on Build GRCh38	Gain	SEC14L5 NAGPA NAGPA-AS1 C16orf89 EEF2KMT ALG1 RBFOX1
nsv1038475	Chr.16:5004985 - 5310633 on Build GRCh38	Gain	SEC14L5 NAGPA NAGPA-AS1 C16orf89 EEF2KMT ALG1 RBFOX1
esv2760069	Chr.16:4922849 - 5374828 on Build GRCh38	Gain+Loss	SEC14L5 NAGPA NAGPA-AS1 C16orf89 PPL EEF2KMT ALG1 RBFOX1
nsv457360	Chr.16:4960912 - 5284683 on Build GRCh38	Loss	SEC14L5 NAGPA NAGPA-AS1 C16orf89 EEF2KMT ALG1 RBFOX1
nsv571304	Chr.16:5069871 - 5178792 on Build GRCh38	Loss	EEF2KMT ALG1
nsv817715	Chr.16:5006294 - 5309352 on Build GRCh38	Gain	SEC14L5 NAGPA NAGPA-AS1 C16orf89 EEF2KMT ALG1 RBFOX1
nsv1039432	Chr.16:5013335 - 5074451 on Build GRCh38	Loss	SEC14L5 NAGPA NAGPA-AS1 C16orf89 ALG1

More Information

Additional Information:

For this assay, SNP(s) [rs113219939] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

protein glycosylation
dolichol-linked oligosaccharide biosynthetic process
lipopolysaccharide biosynthetic process
mannosylation

Function(s)

mannosyltransferase activity
chitobiosyldiphosphodolichol beta-mannosyltransferase activity