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 Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
WHSC1 | NM_001042424.2 | NP_001035889.1 | ||
XM_005248002.2 | XP_005248059.1 | |||
XM_005248005.2 | XP_005248062.1 | |||
AK289697.1 | ||||
BC020545.1 | ||||
BC052254.1 | AAH52254.1 | |||
CX866583.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv593346 | Chr.4:1870601 - 1891901 on Build GRCh38 | Loss | WHSC1 |
nsv829836 | Chr.4:1775678 - 1901525 on Build GRCh38 | Loss | WHSC1 FGFR3 LETM1 |
More Information
Additional Information:
For this assay, SNP(s) [rs116228700] 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 Intronic Non-exonic DGV Variation |