Product Details

Assay Reference Genome
Location

Chr.17:58205547 on build GRCh38
Cytoband
17q22
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
54903
Gene Symbol
MKS1
Gene Name
Meckel syndrome, type 1
Gene Aliases
BBS13, MES, MKS, POC12
Location
Chr.17:58205436-58219605 on build GRCh38
Assay Gene Location
Within Exon 20
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MKS1 NM_001165927.1 18 2276 NP_001159399.1
NM_001321268.1 17 2189 NP_001308197.1
NM_001321269.1 17 2204 NP_001308198.1
NM_017777.3 18 2287 NP_060247.2
XM_005257485.3 17 2185 XP_005257542.1
XM_006721965.2 16 2038 XP_006722028.1
XM_011524957.2 17 2184 XP_011523259.1
XM_011524958.2 18 2267 XP_011523260.1
XM_011524959.2 16 2049 XP_011523261.1
XM_017024803.1 16 2018 XP_016880292.1
XM_017024805.1 18 2301 XP_016880294.1
AI208274.1 1 116
AK000352.1 15 1957 BAA91105.1
BC010061.2 16 1577 AAH10061.1
BE327525.1 1 122
DQ185029.1 AAZ94714.1
KU178661.1
KU178662.1
KU178663.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv517229 Chr17:58176226 - 58373163 on Build GRCh38 Gain+Loss TSPOAP1 SUPT4H1 MKS1 TSPOAP1-AS1 LPO MPO RNF43 MIR4736 EPX MIR142
nsv457858 Chr17:58180623 - 58212973 on Build GRCh38 Loss MKS1 EPX

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