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 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AMDHD2 | NM_001145815.1 | NP_001139287.1 | ||
NM_015944.3 | 10 | 1510 | NP_057028.2 | |
XM_017023262.1 | 11 | 1431 | XP_016878751.1 | |
XM_017023263.1 | 9 | 1419 | XP_016878752.1 | |
XM_017023264.1 | 10 | 1362 | XP_016878753.1 | |
XM_017023265.1 | 10 | 1329 | XP_016878754.1 | |
XM_017023266.1 | 10 | 1377 | XP_016878755.1 | |
XM_017023267.1 | 9 | 1373 | XP_016878756.1 | |
AB209351.1 | BAD92588.1 | |||
AF132948.1 | AAD27723.1 | |||
AK296877.1 | ||||
AK300747.1 | ||||
BC018734.1 | 10 | 1446 | 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 | LOC105371046 LOC729652 ABCA17P ZNF598 AXIN1 LMF1 RNF151 PDIA2 TBL3 RPL3L HBM PKD1 CHTF18 MIR3178 C16orf59 TBC1D24 SNRNP25 PIGQ RAB40C SNHG19 LINC00235 LOC652276 FAHD1 HAGH TSR3 TRAF7 C1QTNF8 HBQ1 IGFALS HBA2 WDR24 E4F1 TELO2 PRR25 RNPS1 TSC2 SPSB3 WDR90 MSRB1 NTN3 RHOT2 EME2 NUBP2 CEMP1 SNORD60 DNASE1L2 HN1L MIR3677 CLCN7 MIR6859-4 LOC101929280 PTX4 SNORA78 RPS2 LOC100287175 STUB1 LOC106660606 PGP CCNF HS3ST6 LOC105371047 MCRIP2 MIR4717 SNORA10 HBA1 AMDHD2 MIR6767 NPRL3 LOC100134368 GNG13 IFT140 NDUFB10 LOC105371045 POLR3K MEIOB TPSB2 LOC105371049 CAPN15 SSTR5-AS1 NARFL RAB11FIP3 RPUSD1 ABCA3 MIR3176 HAGHL MIR5587 ARHGDIG MRPL28 RHBDF1 LOC105371184 GNPTG LINC00254 PDPK1 MSLN GFER NPW CASKIN1 SYNGR3 JMJD8 LOC107984876 C16orf91 MIR4516 METTL26 LOC105371038 RGS11 NTHL1 CRAMP1 LOC107987233 MIR940 SNORA64 FAM234A DECR2 UBE2I FLJ42627 PRSS29P DDX11L10 LUC7L NME4 RAB26 ATP6V0C FAM173A WFIKKN1 PRSS27 KCTD5 NHLRC4 HBZ TMEM8A SLC9A3R2 ECI1 NME3 MIR3177 CACNA1H MPG MIR6511B1 TPSG1 MIR3180-5 UNKL TPSAB1 MRPS34 SOX8 NOXO1 MIR6768 PRR35 MLST8 LMF1-AS1 WASIR2 ERVK13-1 CCDC78 SNHG9 TPSD1 RPL23AP5 RHBDL1 MIR662 FBXL16 CCDC154 SSTR5 TMEM204 MAPK8IP3 METRN BAIAP3 BRICD5 MIR1225 |
esv2760067 | Chr.16:2486824 - 2820535 on Build GRCh38 | Gain+Loss | PRSS21 PRSS27 PRSS41 KCTD5 ERVK13-1 PRSS33 CEMP1 SRRM2-AS1 AMDHD2 SRRM2 PDPK1 MIR3178 TBC1D24 TCEB2 FLJ42627 LOC652276 ATP6V0C |
nsv833122 | Chr.16:2501717 - 2663937 on Build GRCh38 | Loss | AMDHD2 PDPK1 ERVK13-1 MIR3178 CEMP1 TBC1D24 FLJ42627 LOC652276 ATP6V0C |
nsv1052260 | Chr.16:2074546 - 2629655 on Build GRCh38 | Gain | NTN3 LOC729652 CEMP1 ABCA3 ABCA17P SNORD60 DNASE1L2 ECI1 MIR3677 PDPK1 MIR6511B1 PKD1 MIR3180-5 MIR3178 C16orf59 CASKIN1 TBC1D24 LOC106660606 PGP SNHG19 CCNF LOC652276 MIR6768 MIR4516 MLST8 TRAF7 MIR4717 E4F1 MIR940 AMDHD2 MIR6767 RNPS1 TSC2 BRICD5 MIR1225 LOC105371049 RAB26 ATP6V0C |
More Information
Additional Information:
For this assay, SNP(s) [rs75096863] 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 |