Genomic Map
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Target Gene Details
Entrez Gene ID: | 51382 |
Gene Name: | ATPase H+ transporting V1 subunit D |
Gene Aliases: |
ATP6M, VATD, VMA8 |
Location: |
Chr.14:67337864-67360003 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| ATP6V1D | NM_015994.3 | NP_057078.1 | ||
| AF077614.1 | AAG43047.1 | |||
| AF100741.1 | AAD40384.1 | |||
| AF104629.1 | AAG30726.1 | |||
| AF145316.1 | AAD33953.1 | |||
| AK001155.1 | BAA91523.1 | |||
| AK315784.1 | ||||
| BC001411.2 | AAH01411.1 | |||
| BC025373.1 | AAH25373.1 | |||
| BC031002.1 | AAH31002.1 | |||
| BF669634.1 | ||||
| DB039102.1 |
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 Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv2751285 | Chr.14:66898030 - 67420064 on Build GRCh38 | Gain |
 GPHN
FAM71D
ATP6V1D
EIF2S1
MPP5
LOC105370541
PLEK2
|
| nsv832821 | Chr.14:67123701 - 67361452 on Build GRCh38 | Gain |
GPHN
FAM71D
ATP6V1D
EIF2S1
MPP5
LOC105370541
|
| nsv456331 | Chr.14:67266144 - 67637063 on Build GRCh38 | Gain |
GPHN
HMGB1P34
PIGH
TMEM229B
ATP6V1D
PLEKHH1
ARG2
MIR5694
EIF2S1
MPP5
LOC105370541
PLEK2
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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