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

Chr.1:228147492 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00714272_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 8
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GUK1 NM_000858.5 6 641 NP_000849.1
NM_001159390.1 5 476 NP_001152862.1
NM_001159391.1 5 390 NP_001152863.1
NM_001242839.1 5 416 NP_001229768.1
NM_001242840.1 5 476 NP_001229769.1
XM_005273103.3 7 812 XP_005273160.1
XM_005273104.4 7 810 XP_005273161.1
XM_005273105.3 6 669 XP_005273162.1
XM_005273106.2 5 857 XP_005273163.1
XM_011544174.2 5 3240 XP_011542476.1
XM_017001091.1 7 794 XP_016856580.1
XM_017001092.1 6 1129 XP_016856581.1
XM_017001093.1 6 589 XP_016856582.1
XM_017001094.1 5 427 XP_016856583.1
XM_017001095.1 6 586 XP_016856584.1
XM_017001096.1 5 426 XP_016856585.1
AK303845.1 5 429
AL832986.1 2 2152 CAH56207.1
BC006249.2 6 579 AAH06249.1
BC007369.2 4 293 AAH07369.2
BC009914.2 6 553 AAH09914.1
BC091480.1 5 396 AAH91480.1
BE780558.1 5 363
BI771824.1 5 416
BM790067.1 5 497
CR456836.1 4 338 CAG33117.1
CR542006.1 4 338 CAG46803.1
L76200.1 4 338 AAC37598.1
U66895.1 4 344 AAC50659.1

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 GJC2 GUK1
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion C1orf145 MRPL55 IBA57 ARF1 IBA57-AS1 C1orf35 GJC2 OBSCN MIR3620 GUK1
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain ARF1 MIR6742 HIST3H2A WNT3A JMJD4 C1orf145 SNAP47 MIR5008 IBA57 TRIM11 LOC105373289 C1orf35 GJC2 MIR4666A LOC107985355 MRPL55 RNF187 LOC100506571 HIST3H3 WNT9A PRSS38 TRIM17 HIST3H2BB GUK1 LOC101060022 LOC101927401 IBA57-AS1 OBSCN MIR3620
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S8 ARF1 RNA5S13 MIR6742 RNA5S3 WNT3A DUSP5P1 C1orf145 SNAP47 MIR5008 IBA57 RNA5S9 RNA5S11 GJC2 MIR4666A RNA5S14 RNF187 LOC100506571 HIST3H3 RNA5S5 TRIM17 RNA5S12 IBA57-AS1 RNA5S10 RNA5S1 RNA5S7 MIR3620 BTNL10 HIST3H2A RNA5S2 RNA5S4 JMJD4 RNA5S15 LOC105373132 TRIM11 LOC105373289 RNA5S6 C1orf35 LOC107985355 MRPL55 WNT9A PRSS38 HIST3H2BB GUK1 LOC101060022 RNA5S16 RNA5S17 LOC101927401 OBSCN RHOU
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss MIR6742 HIST3H2A HIST3H3 TRIM17 HIST3H2BB GUK1 C1orf145 IBA57 TRIM11 LOC101927401 IBA57-AS1 GJC2 OBSCN MIR4666A
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss ARF1 MIR6742 HIST3H2A WNT3A C1orf145 MIR5008 IBA57 TRIM11 C1orf35 GJC2 MIR4666A LOC107985355 MRPL55 RNF187 LOC100506571 HIST3H3 WNT9A TRIM17 HIST3H2BB GUK1 LOC101060022 LOC101927401 IBA57-AS1 OBSCN MIR3620
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57 IBA57-AS1 GJC2 GUK1
nsv549290 Chr.1:228145951 - 228162105 on Build GRCh38 Loss GJC2 GUK1

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