Assay Details
Target Gene Details
Entrez Gene ID: | 2235 |
Gene Name: | ferrochelatase |
Gene Aliases: |
EPP, FCE |
Location: |
Chr.18:57544841-57586737 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FECH | NM_000140.3 | 11 | 2088 | NP_000131.2 |
NM_001012515.2 | 11 | 2106 | NP_001012533.1 | |
XM_011525881.1 | 10 | 1978 | XP_011524183.1 | |
XM_011525882.2 | 11 | 2071 | XP_011524184.1 | |
XM_017025614.1 | 10 | 1960 | XP_016881103.1 | |
AK092416.1 | 11 | 2023 | BAC03882.1 | |
AK223190.1 | 11 | 1963 | BAD96910.1 | |
BC039841.1 | 11 | 2055 | AAH39841.2 | |
BX571744.1 | 11 | 1967 | CAE11869.1 | |
D00726.1 | 11 | 2000 | BAA00628.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833663 | Chr.18:57549030 - 57718589 on Build GRCh38 | Gain | LOC100505549 FECH ATP8B1 NARS |
nsv577032 | Chr.18:57517516 - 57756707 on Build GRCh38 | Gain | LOC100505549 FECH ATP8B1 NARS |
esv2751777 | Chr.18:57515803 - 57805084 on Build GRCh38 | Gain | LOC100505549 FECH ATP8B1 NARS |
More Information
Additional Information:
For this assay, SNP(s) [rs76175837] 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 |