Genomic Map
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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 Intron 30 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| GPHN | XM_017020925.1 | XP_016876414.1 |
Target Gene Details
Entrez Gene ID: | 161145 |
Gene Name: | transmembrane protein 229B |
Gene Aliases: |
C14orf83 |
Location: |
Chr.14:67470266-67534350 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TMEM229B | NM_182526.2 | NP_872332.1 | ||
| XM_005267373.2 | XP_005267430.1 | |||
| XM_005267374.3 | XP_005267431.1 | |||
| XM_005267375.2 | XP_005267432.1 | |||
| XM_006720062.2 | XP_006720125.1 | |||
| XM_017021051.1 | XP_016876540.1 | |||
| XM_017021052.1 | XP_016876541.1 | |||
| XM_017021053.1 | XP_016876542.1 | |||
| XM_017021054.1 | XP_016876543.1 | |||
| XM_017021055.1 | XP_016876544.1 | |||
| AK090706.1 | BAC03507.1 | |||
| BC104940.1 | AAI04941.1 | |||
| BC104942.1 | AAI04943.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3892557 | Chr.14:67469765 - 67613847 on Build GRCh38 | Gain |
 PLEKHH1
GPHN
TMEM229B
PIGH
|
| dgv1929n100 | Chr.14:67466159 - 67497638 on Build GRCh38 | Gain |
GPHN
TMEM229B
|
| nsv1320 | Chr.14:67472007 - 67517440 on Build GRCh38 | Deletion |
GPHN
TMEM229B
|
| nsv456331 | Chr.14:67266144 - 67637063 on Build GRCh38 | Gain |
PLEKHH1
LOC105370541
EIF2S1
MPP5
ARG2
GPHN
MIR5694
HMGB1P34
TMEM229B
ATP6V1D
PLEK2
PIGH
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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