Assay Details
Target Gene Details
Entrez Gene ID: | 7468 |
Gene Name: | Wolf-Hirschhorn syndrome candidate 1 |
Gene Aliases: |
MMSET, NSD2, REIIBP, TRX5, WHS |
Location: |
Chr.4:1871357-1982207 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
WHSC1 | NM_001042424.2 | 2 | 625 | NP_001035889.1 |
NM_007331.1 | 4 | 943 | NP_015627.1 | |
NM_133330.2 | 4 | 943 | NP_579877.1 | |
NM_133331.2 | 3 | 763 | NP_579878.1 | |
NM_133334.2 | 1 | 478 | NP_579889.1 | |
NM_133335.3 | 2 | 588 | NP_579890.1 | |
XM_005248001.3 | 2 | 568 | XP_005248058.1 | |
XM_005248002.2 | 2 | 664 | XP_005248059.1 | |
XM_005248005.2 | 2 | 664 | XP_005248062.1 | |
XM_006713914.3 | 3 | 833 | XP_006713977.1 | |
XM_011513557.2 | 2 | 504 | XP_011511859.1 | |
AF071593.1 | 1 | 478 | AAC24150.1 | |
AF071594.1 | 1 | 478 | AAC24151.1 | |
AF083386.1 | 4 | 943 | AAD19343.1 | |
AF083387.1 | 3 | 763 | AAD21770.1 | |
AF083388.1 | 2 | 587 | AAD21771.1 | |
AF083389.1 | 4 | 943 | AAD19344.1 | |
AF083390.1 | 4 | 943 | AAD19345.1 | |
AF083391.1 | 4 | 943 | AAD19346.1 | |
AJ007042.1 | 2 | 1211 | CAB45386.1 | |
AK289697.1 | 3 | 610 | ||
AY694128.1 | 1 | 460 | AAU09264.1 | |
BC020545.1 | 2 | 560 | ||
BC052254.1 | 2 | 567 | AAH52254.1 | |
BC141815.1 | 2 | 658 | ||
CX866583.1 | 2 | 654 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv829836 | Chr.4:1775678 - 1901525 on Build GRCh38 | Loss | LETM1 WHSC1 FGFR3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |