Assay Details
Target Gene Details
Entrez Gene ID: | 2673 |
Gene Name: | glutamine--fructose-6-phosphate transaminase 1 |
Gene Aliases: |
CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG |
Location: |
Chr.2:69319769-69387254 on Build GRCh38 |
Assay Gene Location: | Within Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GFPT1 | NM_001244710.1 | 20 | 5538 | NP_001231639.1 |
NM_002056.3 | 19 | 5484 | NP_002047.2 | |
XM_017003801.1 | 20 | 5502 | XP_016859290.1 | |
AF445027.1 | 1 | 479 | AAL38588.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv33940 | Chr.2:69115288 - 69789041 on Build GRCh38 | Loss | AAK1 ANXA4 GFPT1 NFU1 SNORA36C ANTXR1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |