Assay Details
Target Gene Details
Entrez Gene ID: | 10745 |
Gene Name: | putative homeodomain transcription factor 1 |
Gene Aliases: |
PHTF |
Location: |
Chr.1:113697202-113759888 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHTF1 | NM_001323041.1 | 7 | 1241 | NP_001309970.1 |
NM_001323042.1 | 7 | 725 | NP_001309971.1 | |
NM_001323043.1 | 7 | 1126 | NP_001309972.1 | |
NM_001323044.1 | 7 | 1499 | NP_001309973.1 | |
NM_001323045.1 | 8 | 1210 | NP_001309974.1 | |
NM_001323046.1 | 5 | 897 | NP_001309975.1 | |
NM_001323047.1 | 7 | 1241 | NP_001309976.1 | |
NM_001323048.1 | 7 | 1126 | NP_001309977.1 | |
NM_001323049.1 | 6 | 1415 | NP_001309978.1 | |
NM_001323050.1 | 8 | 1210 | NP_001309979.1 | |
NM_001323051.1 | 7 | 1499 | NP_001309980.1 | |
NM_001323052.1 | 7 | 1126 | NP_001309981.1 | |
NM_001323053.1 | 7 | 1241 | NP_001309982.1 | |
NM_006608.2 | 6 | 1030 | NP_006599.2 | |
NR_136564.1 | 8 | 1325 | ||
NR_136565.1 | 7 | 1126 | ||
NR_136566.1 | 7 | 1241 | ||
NR_136567.1 | 7 | 1126 | ||
NR_136568.1 | 8 | 1210 | ||
AJ011863.1 | 6 | 609 | CAB51572.1 | |
AK294749.1 | 6 | 756 | ||
BC002447.2 | 7 | 1174 | AAH02447.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3587240 | Chr.1:113533246 - 114158910 on Build GRCh38 | Loss | MAGI3 HIPK1 OLFML3 PHTF1 AP4B1-AS1 DCLRE1B SYT6 PTPN22 RSBN1 BCL2L15 AP4B1 HIPK1-AS1 |
esv2179916 | Chr.1:113724145 - 113728712 on Build GRCh38 | Deletion | PHTF1 |
esv3587239 | Chr.1:113510852 - 113866662 on Build GRCh38 | Loss | MAGI3 PHTF1 AP4B1-AS1 PTPN22 RSBN1 |
nsv831093 | Chr.1:113711545 - 113835613 on Build GRCh38 | Loss | PHTF1 AP4B1-AS1 PTPN22 RSBN1 |
esv23869 | Chr.1:113320330 - 114358495 on Build GRCh38 | Loss | MAGI3 HIPK1 OLFML3 PHTF1 AP4B1-AS1 DCLRE1B SYT6 PTPN22 RSBN1 BCL2L15 AP4B1 HIPK1-AS1 |
More Information
Additional Information:
For this assay, SNP(s) [rs116732089] 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 |