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See other HM13 CNV Assays ›
Gene Symbol
HM13
Assay Reference Genome
Location

Chr.20:31515776 on build GRCh38
Cytoband
20q11.21
Assay ID Hs07201444_cn
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Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 81502

Gene Name:

 histocompatibility minor 13

Gene Aliases:

 H13, IMP1, IMPAS, IMPAS-1, MSTP086, PSENL3, PSL3, SPP, SPPL1

Location:

 Chr.20:31514410-31569567 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HM13 NM_030789.3 NP_110416.1
NM_178580.2 NP_848695.1
NM_178581.2 NP_848696.1
NM_178582.2 NP_848697.1
AF172086.1 AAQ13609.1
AF483215.1 AAM22076.1
AF515663.1 AAN77099.1
AJ345029.1 CAC87790.1
AJ420895.1 CAD13132.1
AK074686.1 BAC11138.1
AK075283.1 BAC11519.1
AK314410.1
AY169310.1 AAO12535.1
AY169311.1 AAO12536.1
AY169312.1 AAO12537.1
BC008938.2 AAH08938.1
BC008959.2 AAH08959.1
BC062595.1 AAH62595.1
BI192962.1
BI552780.1
DA087240.1
DQ168450.1
HY026569.1
KU178790.1
KU178791.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv470546 Chr.20:31245806 - 31647499 on Build GRCh38 Gain DEFB117 HM13-AS1 ID1 DEFB118 COX4I2 LOC107985416 DEFB119 DEFB124 REM1 DEFB122 DEFB121 HM13 DEFB115 DEFB116 LINC00028 DEFB123 MIR3193
esv2763228 Chr.20:31247246 - 31651719 on Build GRCh38 Gain DEFB117 HM13-AS1 ID1 DEFB118 COX4I2 LOC107985416 DEFB119 DEFB124 REM1 DEFB122 DEFB121 HM13 DEFB115 DEFB116 LINC00028 DEFB123 MIR3193
dgv4300n100 Chr.20:31247234 - 32033468 on Build GRCh38 Gain FOXS1 MYLK2 HM13-AS1 PDRG1 DEFB118 TTLL9 DEFB119 REM1 HM13 XKR7 DEFB116 DEFB123 MIR3193 DEFB117 ABALON ID1 COX4I2 TPX2 LOC107985416 DEFB124 DEFB122 CCM2L DEFB121 DEFB115 LINC00028 DUSP15 BCL2L1
esv3645652 Chr.20:31500710 - 31576564 on Build GRCh38 Gain HM13-AS1 HM13 LOC107985416
nsv458961 Chr.20:31305698 - 31688103 on Build GRCh38 Gain DEFB117 HM13-AS1 ID1 DEFB118 COX4I2 LOC107985416 DEFB119 DEFB124 REM1 DEFB122 DEFB121 HM13 DEFB116 LINC00028 DEFB123 BCL2L1 MIR3193

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More Information


Additional Information:

For this assay, SNP(s) [rs73232401] 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 Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

aspartic protease

Gene Ontology Categories:

Function(s) Process(es)


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