Assay Details
Target Gene Details
Entrez Gene ID: | 55502 |
Gene Name: | hes family bHLH transcription factor 6 |
Gene Aliases: |
C-HAIRY1, HES-6, bHLHb41, bHLHc23 |
Location: |
Chr.2:238238267-238240124 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HES6 | NM_001142853.2 | 4 | 568 | NP_001136325.1 |
NM_001282434.1 | 4 | 534 | NP_001269363.1 | |
NM_018645.5 | 4 | 574 | NP_061115.2 | |
AB035179.1 | 4 | 355 | BAA96082.1 | |
AF260237.1 | 4 | 415 | AAK51634.1 | |
AK075040.1 | 3 | 723 | BAC11368.1 | |
AK293111.1 | 4 | 488 | ||
BC007939.2 | 4 | 479 | AAH07939.1 | |
BE796220.1 | 4 | 574 | ||
DB495731.1 | 4 | 443 | ||
DT217800.1 | 4 | 491 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv584761 | Chr.2:238212011 - 238246412 on Build GRCh38 | Gain | LOC151174 HES6 LOC643387 PER2 LOC101927958 |
nsv584764 | Chr.2:238238530 - 238240682 on Build GRCh38 | Gain | HES6 |
nsv1000252 | Chr.2:235899999 - 238766417 on Build GRCh38 | Loss | ILKAP IQCA1 TRAF3IP1 GBX2 AGAP1 LOC105373944 UBE2F-SCLY ASB18 UBE2F RAB17 LOC151174 ACKR3 SCLY ERFE MLPH LOC93463 LOC105373991 LINC01107 RAMP1 RBM44 LRRFIP1 PRLH LOC643387 PER2 LOC105373958 LOC101927958 COL6A3 KLHL30 MIR6811 HES6 COPS8 ESPNL ASB1 |
dgv7349n54 | Chr.2:238238228 - 238241307 on Build GRCh38 | Loss | HES6 |
esv21505 | Chr.2:238238959 - 238241354 on Build GRCh38 | Loss | HES6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |