Assay Details
Target Gene Details
Entrez Gene ID: | 8693 |
Gene Name: | polypeptide N-acetylgalactosaminyltransferase 4 |
Gene Aliases: |
GALNAC-T4, GALNACT4 |
Location: |
Chr.12:89519412-89524806 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GALNT4 | NM_003774.4 | 1 | 3770 | NP_003765.2 |
AK026438.1 | 1 | 1310 | ||
BC036390.2 | 1 | 3726 | AAH36390.1 |
Target Gene Details
Entrez Gene ID: | 282809 |
Gene Name: | POC1 centriolar protein B |
Gene Aliases: |
CORD20, PIX1, TUWD12, WDR51B |
Location: |
Chr.12:89419718-89526262 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POC1B | NM_001199777.1 | NP_001186706.1 | ||
NM_172240.2 | NP_758440.1 | |||
NR_037659.1 | ||||
NR_037660.1 | ||||
AB053266.1 | BAB69057.1 | |||
AK074772.1 | BAC11198.1 | |||
AK123106.1 | ||||
AK295596.1 | ||||
BC026080.2 | AAH26080.1 | |||
BU521431.1 | ||||
DA851891.1 | ||||
EF011619.1 |
Target Gene Details
Entrez Gene ID: | 100528030 |
Gene Name: | POC1B-GALNT4 readthrough |
Gene Aliases: |
- |
Location: |
Chr.12:89519412-89526262 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POC1B-GALNT4 | NM_001199781.1 | 3 | 3871 | NP_001186710.1 |
NM_001199782.1 | 3 | 3104 | NP_001186711.1 | |
BX647258.1 | 3 | 3607 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832479 | Chr.12:89467313 - 89672992 on Build GRCh38 | Gain | POC1B ATP2B1 GALNT4 POC1B-GALNT4 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |