Assay Details
Target Gene Details
Entrez Gene ID: | 57657 |
Gene Name: | hyperpolarization activated cyclic nucleotide gated potassium channel 3 |
Gene Aliases: |
- |
Location: |
Chr.1:155277427-155289848 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HCN3 | NM_020897.2 | 8 | 3439 | NP_065948.1 |
XM_011509816.2 | 8 | 3957 | XP_011508118.1 | |
XM_011509817.2 | 7 | 3277 | XP_011508119.1 | |
XM_011509818.2 | 7 | 2669 | XP_011508120.1 | |
XM_017001918.1 | 7 | 2651 | XP_016857407.1 | |
AB040968.2 | 8 | 3088 | BAA96059.2 | |
AK055840.1 | ||||
BC000066.1 | 7 | 2667 | AAH00066.1 | |
BC028024.1 | 5 | 2304 | AAH28024.2 |
Target Gene Details
Entrez Gene ID: | 5313 |
Gene Name: | pyruvate kinase, liver and RBC |
Gene Aliases: |
PK1, PKL, PKR, PKRL, RPK |
Location: |
Chr.1:155289293-155301434 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PKLR | NM_000298.5 | 11 | 2923 | NP_000289.1 |
NM_181871.3 | 11 | 2905 | NP_870986.1 | |
BF110802.1 | 1 | 131 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv3032 | Chr.1:155285619 - 155318185 on Build GRCh38 | Insertion | FDPS LOC105371451 HCN3 PKLR |
nsv831636 | Chr.1:155249432 - 155475073 on Build GRCh38 | Loss | RUSC1-AS1 ASH1L FAM189B SCAMP3 MIR555 FDPS CLK2 LOC105371451 POU5F1P4 HCN3 RUSC1 PKLR |
esv33869 | Chr.1:155253492 - 155948170 on Build GRCh38 | Loss | RUSC1-AS1 ARHGEF2 SCAMP3 YY1AP1 CLK2 GON4L PKLR MSTO2P ASH1L FAM189B MIR555 SYT11 FDPS POU5F1P4 RUSC1 LOC100505728 SCARNA4 SCARNA26A DAP3 RIT1 LOC105371451 RXFP4 SNORA80E SCARNA26B HCN3 KIAA0907 MSTO1 ASH1L-AS1 |
nsv952214 | Chr.1:155279610 - 155304509 on Build GRCh38 | Deletion | HCN3 PKLR |
nsv436027 | Chr.1:155260761 - 155291532 on Build GRCh38 | Insertion | SCAMP3 CLK2 HCN3 PKLR |
esv23319 | Chr.1:155257268 - 155292883 on Build GRCh38 | Gain | SCAMP3 CLK2 HCN3 PKLR |
dgv3n68 | Chr.1:155122502 - 155343618 on Build GRCh38 | Loss | RUSC1-AS1 THBS3 SCAMP3 GBA CLK2 LOC105371451 MIR92B TRIM46 PKLR EFNA1 SLC50A1 MUC1 ASH1L FAM189B GBAP1 MTX1 DPM3 FDPS KRTCAP2 HCN3 RUSC1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |