Product Details

Assay Reference Genome
Location

Chr.7:65967667 on build GRCh38
Cytoband
7q11.21
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
2990
Gene Symbol
GUSB
Gene Name
glucuronidase beta
Gene Aliases
BG, MPS7
Location
Chr.7:65960684-65982314 on build GRCh38
Assay Gene Location
Within Intron 10
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
GUSB NM_000181.3 NP_000172.2
NM_001284290.1 NP_001271219.1
NM_001293104.1 NP_001280033.1
NM_001293105.1 NP_001280034.1
NR_120531.1
XM_005250297.3 XP_005250354.1
XM_011516113.1 XP_011514415.1
XM_011516114.1 XP_011514416.1
XM_017012091.1 XP_016867580.1
XM_017012092.1 XP_016867581.1
XM_017012093.1 XP_016867582.1
AK096764.1
AK223406.1 BAD97126.1
AK300223.1
AK303819.1
AK312752.1
BC014142.2 AAH14142.1
BM719712.1
CD014092.1
CD014093.1
CD014094.1
M10618.1 AAA52621.1
M15182.1 AAA52561.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1028971 Chr7:65949077 - 65992450 on Build GRCh38 Gain VKORC1L1 GUSB
esv3613492 Chr7:65946577 - 66001473 on Build GRCh38 Gain VKORC1L1 GUSB
esv2761079 Chr7:65601260 - 66224746 on Build GRCh38 Gain+Loss SNORA22 VKORC1L1 CCT6P1 GUSB TPST1 INTS4P2 LOC441242 LOC84214 ASL CRCP
esv3613493 Chr7:65949620 - 65975662 on Build GRCh38 Gain VKORC1L1 GUSB
esv2664145 Chr7:65814760 - 66395282 on Build GRCh38 Deletion VKORC1L1 GUSB TPST1 LOC84214 LINC00174 ASL CRCP
nsv981505 Chr7:65963361 - 65980887 on Build GRCh38 Duplication GUSB
esv21527 Chr7:65948375 - 66003033 on Build GRCh38 Gain VKORC1L1 GUSB

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