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 | 543 | NP_001019389.1 |
NM_020806.4 | 1 | 543 | NP_065857.1 | |
XM_011536340.2 | XP_011534642.1 | |||
XM_011536342.2 | XP_011534644.1 | |||
XM_011536343.2 | XP_011534645.1 | |||
XM_011536344.2 | XP_011534646.1 | |||
XM_011536345.2 | XP_011534647.1 | |||
XM_017020913.1 | XP_016876402.1 | |||
XM_017020914.1 | XP_016876403.1 | |||
XM_017020915.1 | XP_016876404.1 | |||
XM_017020916.1 | XP_016876405.1 | |||
XM_017020917.1 | XP_016876406.1 | |||
XM_017020918.1 | XP_016876407.1 | |||
XM_017020919.1 | XP_016876408.1 | |||
XM_017020921.1 | XP_016876410.1 | |||
XM_017020923.1 | XP_016876412.1 | |||
XM_017020924.1 | XP_016876413.1 | |||
XM_017020925.1 | XP_016876414.1 | |||
XM_017020926.1 | XP_016876415.1 | |||
AB037806.1 | 1 | 543 | ||
AF272663.1 | 1 | 543 | 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 PLEKHG3 GPHN MIR7855 ZBTB25 MIR4706 ZBTB1 MAX HSPA2 MIR548H1 GPX2 AKAP5 LOC100506321 LINC00238 RAB15 MIR4708 LOC102723809 CHURC1-FNTB MIR625 FNTB FUT8-AS1 ESR2 LOC100128233 CHURC1 SYNE2 TEX21P FUT8 SGPP1 PPP1R36 SPTB |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |