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 | MTHFD1 CHURC1-FNTB ESR2 MIR4706 TEX21P RAB15 AKAP5 LINC00238 MIR625 PPP1R36 GPHN SYNE2 LOC102723809 PLEKHG3 LOC100128233 CHURC1 MAX FUT8 FNTB MIR7855 ZBTB1 MIR548H1 FUT8-AS1 MIR4708 LOC100506321 GPX2 SGPP1 ZBTB25 SPTB HSPA2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |