Genomic Map
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Target Gene Details
Entrez Gene ID: | 87178 |
Gene Name: | polyribonucleotide nucleotidyltransferase 1 |
Gene Aliases: |
COXPD13, DFNB70, OLD35, PNPASE, old-35 |
Location: |
Chr.2:55634063-55693910 on Build GRCh38 |
Assay Gene Location: | Within Intron 26 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PNPT1 | NM_033109.4 | NP_149100.2 | ||
| XM_005264629.2 | XP_005264686.1 | |||
| XM_017005172.1 | XP_016860661.1 | |||
| AJ458465.1 | CAD30289.1 | |||
| AY027528.1 | AAK13047.1 | |||
| AY290863.1 | AAP44472.1 | |||
| BC000862.2 | AAH00862.2 | |||
| BC005986.1 | AAH05986.1 | |||
| BC053660.1 | AAH53660.1 | |||
| CR749867.1 | CAH18709.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3575244 | Chr.2:55522427 - 56940881 on Build GRCh38 | Gain |
 PNPT1
EFEMP1
LOC107985795
MIR216A
MIR216B
CCDC85A
MIR217
CFAP36
MIR217HG
LOC105374690
PPP4R3B
LOC100129434
LOC101927165
|
| esv2759050 | Chr.2:55520103 - 55753939 on Build GRCh38 | Gain |
PNPT1
CFAP36
PPP4R3B
|
| nsv520581 | Chr.2:55395689 - 55675881 on Build GRCh38 | Loss |
PNPT1
CFAP36
PPP4R3B
CCDC88A
|
| nsv834080 | Chr.2:55513900 - 55700793 on Build GRCh38 | Loss |
PNPT1
CFAP36
PPP4R3B
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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