Genomic Map
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Target Gene Details
Entrez Gene ID: | 1356 |
Gene Name: | ceruloplasmin (ferroxidase) |
Gene Aliases: |
CP-2 |
Location: |
Chr.3:149162410-149222050 on Build GRCh38 |
Assay Gene Location: | Within Exon 22 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CP | NR_046371.1 | 18 | 3269 | |
| XM_006713499.2 | 20 | 3650 | XP_006713562.1 | |
| XM_011512435.1 | 20 | 3662 | XP_011510737.1 | |
| AK299272.1 | ||||
| CB321657.1 | 1 | 378 |
Target Gene Details
Entrez Gene ID: | 84343 |
Gene Name: | HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
Gene Aliases: |
BLOC2S1, SUTAL |
Location: |
Chr.3:149129584-149173196 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| HPS3 | NM_001308258.1 | 12 | 2018 | NP_001295187.1 |
| NM_032383.4 | 13 | 2513 | NP_115759.2 | |
| XM_005247834.3 | XP_005247891.1 | |||
| XM_017007323.1 | 13 | 2488 | XP_016862812.1 | |
| AK026357.1 | 3 | 504 | BAB15459.1 | |
| AK056575.1 | 12 | 1781 | BAB71221.1 | |
| AK291631.1 | 13 | 2488 | ||
| AK298478.1 | 12 | 1950 | ||
| AL832735.1 | 9 | 1265 | ||
| AL833878.1 | 7 | 1056 | CAD38735.1 | |
| AY033141.1 | 13 | 2513 | AAK53457.1 | |
| BC016901.1 | 4 | 670 | AAH16901.1 | |
| BC022062.2 | 12 | 1936 | AAH22062.2 | |
| BC040359.1 | 13 | 2450 | AAH40359.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv998572 | Chr.3:149131476 - 149412700 on Build GRCh38 | Loss |
 TM4SF1
TM4SF18
CP
TM4SF1-AS1
HPS3
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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