Assay Details
Target Gene Details
Entrez Gene ID: | 10243 |
Gene Name: | gephyrin |
Gene Aliases: |
GEPH, GPH, GPHRYN, HKPX1, MOCODC |
Location: |
Chr.14:66507407-67735831 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GPHN | NM_001024218.1 | 1 | 194 | NP_001019389.1 |
NM_020806.4 | 1 | 194 | NP_065857.1 | |
AB037806.1 | 1 | 194 | ||
AF272663.1 | 1 | 194 | AAF81785.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv525460 | Chr.14:66384467 - 67159877 on Build GRCh38 | Loss | GPHN LINC00238 |
nsv564953 | Chr.14:65821203 - 66580242 on Build GRCh38 | Gain | GPHN LINC00238 |
esv2748779 | Chr.14:63663324 - 66595809 on Build GRCh38 | Deletion | MIR4706 SGPP1 CHURC1-FNTB TEX21P FUT8-AS1 GPHN ZBTB1 ZBTB25 SYNE2 MIR548H1 MAX MIR4708 MIR625 LINC00238 LOC100128233 PLEKHG3 HSPA2 FUT8 MIR7855 AKAP5 LOC102723809 GPX2 SPTB LOC100506321 PPP1R36 MTHFD1 FNTB CHURC1 RAB15 ESR2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |