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See other GUK1 CNV Assays ›
Gene Symbol
GUK1
Assay Reference Genome
Location

Chr.1:228141275 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01253451_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 2987

Gene Name:

 guanylate kinase 1

Gene Aliases:

 GMK

Location:

 Chr.1:228139643-228148955 on Build GRCh38

Assay Gene Location:

 Within Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GUK1 NM_000858.5 NP_000849.1
NM_001159390.1 NP_001152862.1
NM_001242839.1 NP_001229768.1
NM_001242840.1 NP_001229769.1
XM_005273103.3 XP_005273160.1
XM_005273104.4 XP_005273161.1
XM_005273105.3 XP_005273162.1
XM_005273106.2 XP_005273163.1
XM_017001091.1 XP_016856580.1
XM_017001092.1 2 254 XP_016856581.1
XM_017001093.1 XP_016856582.1
XM_017001094.1 XP_016856583.1
XM_017001095.1 XP_016856584.1
XM_017001096.1 XP_016856585.1
AK303845.1
BC006249.2 AAH06249.1
BC009914.2 AAH09914.1
BC091480.1 AAH91480.1
BI771824.1
BM790067.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv952137 Chr.1:228140600 - 228182899 on Build GRCh38 Deletion IBA57 IBA57-AS1 GUK1 GJC2
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion MIR3620 IBA57 MRPL55 OBSCN ARF1 IBA57-AS1 GUK1 GJC2 C1orf145 C1orf35
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain LOC100506571 SNAP47 WNT3A GUK1 HIST3H2A MIR5008 MIR3620 IBA57 LOC105373289 IBA57-AS1 GJC2 C1orf35 WNT9A LOC107985355 JMJD4 HIST3H2BB MRPL55 TRIM11 LOC101060022 TRIM17 PRSS38 MIR6742 RNF187 HIST3H3 OBSCN ARF1 LOC101927401 C1orf145 MIR4666A
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain SNAP47 GUK1 RNA5S6 RNA5S17 DUSP5P1 RNA5S4 LOC105373289 LOC107985355 RNA5S16 MRPL55 TRIM11 RNA5S9 TRIM17 PRSS38 LOC105373132 RNA5S14 BTNL10 MIR6742 RNF187 RNA5S15 OBSCN ARF1 LOC101927401 MIR4666A RNA5S12 LOC100506571 WNT3A RNA5S1 RNA5S8 HIST3H2A MIR5008 MIR3620 IBA57 RHOU IBA57-AS1 GJC2 C1orf35 RNA5S7 WNT9A RNA5S5 JMJD4 HIST3H2BB RNA5S3 RNA5S13 LOC101060022 RNA5S10 HIST3H3 C1orf145 RNA5S2 RNA5S11
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H2BB GUK1 TRIM11 HIST3H2A TRIM17 MIR6742 IBA57 HIST3H3 OBSCN LOC101927401 IBA57-AS1 GJC2 C1orf145 MIR4666A
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss LOC100506571 WNT3A GUK1 HIST3H2A MIR5008 MIR3620 IBA57 IBA57-AS1 GJC2 C1orf35 WNT9A LOC107985355 HIST3H2BB MRPL55 TRIM11 LOC101060022 TRIM17 MIR6742 RNF187 HIST3H3 OBSCN ARF1 LOC101927401 C1orf145 MIR4666A
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57 IBA57-AS1 GUK1 GJC2

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