Product Details

Assay Reference Genome
Location

Chr.7:65961517 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 11
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
AA947121.1
AK096764.1
AK223406.1 BAD97126.1
AK300223.1
AK303819.1
AK312752.1
BC014142.2 AAH14142.1
BM719712.1
CD014092.1
CD014093.1
CD014094.1
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 GUSB VKORC1L1
esv3613492 Chr7:65946577 - 66001473 on Build GRCh38 Gain GUSB VKORC1L1
esv2761079 Chr7:65601260 - 66224746 on Build GRCh38 Gain+Loss INTS4P2 CCT6P1 SNORA22 CRCP GUSB ASL TPST1 VKORC1L1 LOC441242 LOC84214
esv3613493 Chr7:65949620 - 65975662 on Build GRCh38 Gain GUSB VKORC1L1
esv2664145 Chr7:65814760 - 66395282 on Build GRCh38 Deletion CRCP GUSB ASL TPST1 VKORC1L1 LOC84214 LINC00174
esv21527 Chr7:65948375 - 66003033 on Build GRCh38 Gain GUSB VKORC1L1

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