Genomic Map
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Target Gene Details
Entrez Gene ID: | 2618 |
Gene Name: | phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase |
Gene Aliases: |
AIRS, GARS, GARTF, PAIS, PGFT, PRGS |
Location: |
Chr.21:33503931-33542917 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| GART | NM_000819.4 | 15 | 1900 | NP_000810.1 |
| NM_001136005.1 | 15 | 2076 | NP_001129477.1 | |
| NM_001136006.1 | 15 | 2039 | NP_001129478.1 | |
| XM_005260941.1 | 15 | 2176 | XP_005260998.1 | |
| XM_006723989.1 | 15 | 2118 | XP_006724052.1 | |
| XM_006723990.1 | 15 | 2006 | XP_006724053.1 | |
| XM_011529526.1 | 15 | 2085 | XP_011527828.1 | |
| AB208785.1 | 15 | 1966 | BAD92022.1 | |
| AK292560.1 | 15 | 2015 | ||
| AK292897.1 | 15 | 1853 | ||
| AK295980.1 | 5 | 520 | ||
| BC107712.1 | 15 | 1854 | AAI07713.1 | |
| BX648124.1 | 15 | 2017 | ||
| X54199.1 | 15 | 1843 | CAA38119.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv509795 | Chr.21:33457276 - 33521074 on Build GRCh38 | Insertion |
 GART
TMEM50B
DNAJC28
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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