Assay Details
Target Gene Details
Entrez Gene ID: | 7227 |
Gene Name: | transcriptional repressor GATA binding 1 |
Gene Aliases: |
GC79, LGCR |
Location: |
Chr.8:115408496-115669633 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TRPS1 | NM_001282902.2 | 6 | 6401 | NP_001269831.1 |
NM_001282903.2 | 7 | 6890 | NP_001269832.1 | |
NM_014112.4 | 7 | 6904 | NP_054831.2 | |
XM_005251049.2 | 6 | 6719 | XP_005251106.1 | |
XM_006716625.1 | 7 | 6841 | XP_006716688.1 | |
XM_011517264.1 | 8 | 6974 | XP_011515566.1 | |
XM_011517266.2 | 7 | 6709 | XP_011515568.1 | |
XM_011517267.1 | 7 | 6827 | XP_011515569.1 | |
XM_011517268.1 | 7 | 6816 | XP_011515570.1 | |
XM_017013801.1 | 6 | 10503 | XP_016869290.1 | |
AF183810.1 | 7 | 6898 | AAF23614.1 | |
AK021470.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv428205 | Chr.8:115329343 - 115510682 on Build GRCh38 | Gain | TRPS1 |
More Information
Additional Information:
For this assay, SNP(s) [rs79338232] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |