Assay Details
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 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GART | NM_000819.4 | 22 | 3146 | NP_000810.1 |
NM_001136005.1 | 22 | 3322 | NP_001129477.1 | |
NM_001136006.1 | 22 | 3285 | NP_001129478.1 | |
XM_005260941.1 | 22 | 3422 | XP_005260998.1 | |
XM_006723989.1 | 22 | 3364 | XP_006724052.1 | |
XM_006723990.1 | 22 | 3252 | XP_006724053.1 | |
XM_011529526.1 | 22 | 3331 | XP_011527828.1 | |
AB208785.1 | 22 | 3212 | BAD92022.1 | |
AK292560.1 | 22 | 3261 | ||
AK292897.1 | 22 | 3099 | ||
AK295980.1 | 12 | 1766 | ||
BC107712.1 | 22 | 3100 | AAI07713.1 | |
BQ010035.1 | 1 | 231 | ||
BX648124.1 | 22 | 3263 | ||
M32082.1 | 6 | 887 | AAA60077.1 | |
X54199.1 | 22 | 3089 | 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 | TMEM50B DNAJC28 GART |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |