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See other AMDHD2 CNV Assays ›
Gene Symbol
AMDHD2
Assay Reference Genome
Location

Chr.16:2528640 on build GRCh38
Cytoband
16p13.3
Assay ID Hs01893441_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 51005

Gene Name:

 amidohydrolase domain containing 2

Gene Aliases:

 CGI-14

Location:

 Chr.16:2520351-2531414 on Build GRCh38

Assay Gene Location:

 Within Exon 8
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
AMDHD2 NM_001145815.1 8 1148 NP_001139287.1
NM_015944.3 8 1148 NP_057028.2
XM_017023262.1 XP_016878751.1
XM_017023263.1 8 1159 XP_016878752.1
XM_017023264.1 XP_016878753.1
XM_017023265.1 XP_016878754.1
XM_017023266.1 8 1015 XP_016878755.1
XM_017023267.1 7 1011 XP_016878756.1
AB209351.1 4 4496 BAD92588.1
AF132948.1 AAD27723.1
AK296877.1 8 1120
AK300747.1 7 964
BC018734.1 8 1084 AAH18734.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication TMEM204 RHBDL1 EME2 MEIOB CASKIN1 MIR5587 HAGH NUBP2 NDUFB10 TBC1D24 ARHGDIG LOC100134368 LOC107984876 MIR3180-5 NTN3 LOC105371049 WASIR2 SSTR5-AS1 PDPK1 MIR6767 LMF1 LOC652276 UBE2I CCDC154 DECR2 GNG13 C1QTNF8 CRAMP1 C16orf91 TPSG1 PTX4 RHBDF1 TPSD1 HBA2 SPSB3 WDR24 ABCA3 LOC106660606 SNHG19 IFT140 FAHD1 PRR25 PIGQ HBQ1 AMDHD2 MIR4516 MIR3176 TPSB2 HBM DDX11L10 HBA1 AXIN1 LUC7L PRSS29P PRR35 UNKL CCDC78 BRICD5 NOXO1 METTL26 NARFL SNORA10 MSLN MPG MAPK8IP3 MIR3177 GNPTG MSRB1 LINC00235 ATP6V0C RNPS1 LOC105371038 GFER JMJD8 MIR3178 RAB11FIP3 TPSAB1 FAM173A SNORA64 BAIAP3 LOC105371046 MIR6859-4 RPL23AP5 CLCN7 MIR4717 C16orf59 NPRL3 MIR6511B1 HS3ST6 POLR3K SNORD60 DNASE1L2 ABCA17P MIR6768 RGS11 LOC105371184 LOC101929280 PRSS27 ECI1 MCRIP2 METRN SYNGR3 LOC105371045 TELO2 LOC107987233 RAB40C IGFALS CCNF SSTR5 RPL3L FLJ42627 SNORA78 SNRNP25 PGP FAM234A RPS2 MIR940 CAPN15 LOC105371047 HBZ LMF1-AS1 NHLRC4 NME3 CHTF18 HN1L NPW MIR3677 FBXL16 NTHL1 RHOT2 TSC2 SNHG9 WDR90 MIR662 TMEM8A MRPL28 TBL3 ERVK13-1 RAB26 SLC9A3R2 RPUSD1 WFIKKN1 CEMP1 HAGHL LINC00254 PKD1 LOC729652 E4F1 TSR3 MLST8 NME4 SOX8 MIR1225 RNF151 MRPS34 PDIA2 KCTD5 LOC100287175 CACNA1H ZNF598 TRAF7 STUB1
esv2760067 Chr.16:2486824 - 2820535 on Build GRCh38 Gain+Loss PDPK1 PRSS27 ERVK13-1 LOC652276 AMDHD2 CEMP1 ATP6V0C SRRM2 FLJ42627 TBC1D24 MIR3178 SRRM2-AS1 PRSS41 KCTD5 TCEB2 PRSS33 PRSS21
nsv833122 Chr.16:2501717 - 2663937 on Build GRCh38 Loss PDPK1 ATP6V0C ERVK13-1 LOC652276 AMDHD2 FLJ42627 TBC1D24 MIR3178 CEMP1
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR940 MIR4717 AMDHD2 C16orf59 MIR6511B1 MIR4516 CASKIN1 SNORD60 DNASE1L2 MIR3677 ABCA17P MIR6768 TBC1D24 TSC2 MIR3180-5 NTN3 LOC105371049 BRICD5 PDPK1 MIR6767 ECI1 LOC652276 RAB26 CEMP1 CCNF PKD1 LOC729652 E4F1 ATP6V0C MLST8 RNPS1 ABCA3 MIR3178 MIR1225 LOC106660606 TRAF7 PGP SNHG19

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More Information


Additional Information:

For this assay, SNP(s) [rs139057608] 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 DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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