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Gene Symbol
SPECC1L
Assay Reference Genome
Location

Chr.22:24415986 on build GRCh38
Cytoband
22q11.23
Assay ID Hs01421769_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 23384

Gene Name:

 sperm antigen with calponin homology and coiled-coil domains 1 like

Gene Aliases:

 CYTSA, GBBB2, OBLFC1

Location:

 Chr.22:24270817-24417740 on Build GRCh38

Assay Gene Location:

 Within Exon 19
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SPECC1L NM_001145468.3 16 4921 NP_001138940.3
NM_001254732.2 15 4804 NP_001241661.2
NM_001254733.1 9 2460 NP_001241662.1
NM_015330.4 17 5025 NP_056145.4
AB002374.1 13 4250 BAA21574.1
AK025531.1 13 3329
AL832425.1 17 4944 CAH10609.1
BC136471.1 16 4791

Target Gene Details

Entrez Gene ID:

 101730217

Gene Name:

 SPECC1L-ADORA2A readthrough (NMD candidate)

Gene Aliases:

 -

Location:

 Chr.22:24270817-24442360 on Build GRCh38

Assay Gene Location:

 Within Intron 18
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SPECC1L-ADORA2A NR_103546.1
AB209022.1 BAD92259.1
GR939218.1
GR939229.1
GR939241.1
GR939262.1
GR939274.1
GR939286.1
GR939298.1
GR939310.1
GR939322.1
GR939334.1
GR939358.1
GR939370.1
GR939382.1
GR939394.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2724068 Chr.22:24288741 - 24669870 on Build GRCh38 Deletion BCRP3 UPB1 ADORA2A-AS1 GUCD1 ADORA2A POM121L10P SPECC1L-ADORA2A SPECC1L SNRPD3 LRRC75B GGT1
dgv8039n54 Chr.22:23323169 - 24601506 on Build GRCh38 Gain DDT RGL4 C22orf15 ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A MIF-AS1 DDTL SUSD2 LOC107985555 ZDHHC8P1 IGLL1 GSTT2 MMP11 VPREB3 UPB1 ZNF70 LOC100652871 SLC2A11 SPECC1L SNRPD3 GGT1 DERL3 LOC101929374 MIF DRICH1 POM121L9P LRRC75B GSTTP1 CABIN1 GSTT2B GGT5 LOC107985559 PCAT14 SMARCB1 LOC388882 GUSBP11 GUCD1 CES5AP1 CHCHD10
nsv1055830 Chr.22:24005071 - 24643213 on Build GRCh38 Gain BCRP3 ADORA2A-AS1 ADORA2A POM121L9P SPECC1L-ADORA2A SUSD2 LRRC75B GSTTP1 CABIN1 UPB1 GGT5 GUCD1 SPECC1L SNRPD3 GGT1
nsv588744 Chr.22:24285587 - 24617379 on Build GRCh38 Gain UPB1 ADORA2A-AS1 GUCD1 ADORA2A SPECC1L-ADORA2A SPECC1L SNRPD3 LRRC75B GGT1
nsv9884 Chr.22:24415625 - 24662249 on Build GRCh38 Gain+Loss BCRP3 UPB1 ADORA2A-AS1 GUCD1 ADORA2A POM121L10P SPECC1L-ADORA2A SPECC1L SNRPD3 LRRC75B GGT1
nsv834160 Chr.22:24329972 - 24507687 on Build GRCh38 Gain UPB1 ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A SPECC1L
nsv1057819 Chr.22:24290518 - 24624081 on Build GRCh38 Gain UPB1 ADORA2A-AS1 GUCD1 ADORA2A SPECC1L-ADORA2A SPECC1L SNRPD3 LRRC75B GGT1
nsv526567 Chr.22:23348138 - 24600663 on Build GRCh38 Gain DDT RGL4 C22orf15 ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A MIF-AS1 DDTL SUSD2 LOC107985555 ZDHHC8P1 IGLL1 GSTT2 MMP11 VPREB3 UPB1 ZNF70 LOC100652871 SLC2A11 SPECC1L SNRPD3 GGT1 DERL3 LOC101929374 MIF DRICH1 POM121L9P LRRC75B GSTTP1 CABIN1 GSTT2B GGT5 LOC107985559 PCAT14 SMARCB1 LOC388882 GUSBP11 GUCD1 CES5AP1 CHCHD10
esv2724041 Chr.22:23315914 - 24669376 on Build GRCh38 Deletion DDT RGL4 BCRP3 C22orf15 ADORA2A-AS1 ADORA2A POM121L10P SPECC1L-ADORA2A MIF-AS1 DDTL SUSD2 LOC107985555 ZDHHC8P1 IGLL1 GSTT2 MMP11 VPREB3 UPB1 ZNF70 LOC100652871 SLC2A11 SPECC1L SNRPD3 GGT1 DERL3 LOC101929374 MIF BCR DRICH1 POM121L9P LRRC75B GSTTP1 CABIN1 GSTT2B GGT5 LOC107985559 PCAT14 SMARCB1 LOC388882 GUSBP11 GUCD1 CES5AP1 CHCHD10
esv3893463 Chr.22:24009046 - 24601506 on Build GRCh38 Gain ADORA2A-AS1 ADORA2A POM121L9P SPECC1L-ADORA2A SUSD2 LRRC75B CABIN1 UPB1 GGT5 GUCD1 SPECC1L SNRPD3 GGT1
dgv4528n100 Chr.22:23322244 - 24682765 on Build GRCh38 Gain DDT RGL4 BCRP3 C22orf15 ADORA2A-AS1 ADORA2A POM121L10P SPECC1L-ADORA2A MIF-AS1 DDTL SUSD2 LOC107985555 ZDHHC8P1 IGLL1 GSTT2 MMP11 VPREB3 UPB1 ZNF70 LOC100652871 SLC2A11 SPECC1L SNRPD3 GGT1 DERL3 LOC101929374 MIF DRICH1 POM121L9P LRRC75B GSTTP1 CABIN1 GSTT2B GGT5 LOC107985559 PCAT14 SMARCB1 LOC388882 GUSBP11 GUCD1 CES5AP1 CHCHD10
esv996036 Chr.22:24409618 - 24416770 on Build GRCh38 Deletion SPECC1L-ADORA2A SPECC1L
nsv953061 Chr.22:24410533 - 24427132 on Build GRCh38 Deletion ADORA2A SPECC1L-ADORA2A SPECC1L
esv3575443 Chr.22:23348201 - 24670505 on Build GRCh38 Gain DDT RGL4 BCRP3 C22orf15 ADORA2A-AS1 ADORA2A POM121L10P SPECC1L-ADORA2A MIF-AS1 DDTL SUSD2 LOC107985555 ZDHHC8P1 IGLL1 GSTT2 MMP11 VPREB3 UPB1 ZNF70 LOC100652871 SLC2A11 SPECC1L SNRPD3 GGT1 DERL3 LOC101929374 MIF DRICH1 POM121L9P LRRC75B GSTTP1 CABIN1 GSTT2B GGT5 LOC107985559 PCAT14 SMARCB1 LOC388882 GUSBP11 GUCD1 CES5AP1 CHCHD10

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More Information


Additional Information:

For this assay, SNP(s) [rs113596510] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Exonic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s)


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