Assay Details
Target Gene Details
Entrez Gene ID: | 728819 |
Gene Name: | C1GALT1-specific chaperone 1 like |
Gene Aliases: |
- |
Location: |
Chr.2:43675153-43676322 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C1GALT1C1L | NM_001101330.2 | 1 | 724 | NP_001094800.1 |
Target Gene Details
Entrez Gene ID: | 130271 |
Gene Name: | pleckstrin homology, MyTH4 and FERM domain containing H2 |
Gene Aliases: |
PLEKHH1L |
Location: |
Chr.2:43637300-43767987 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLEKHH2 | NM_172069.3 | NP_742066.2 | ||
XM_017003351.1 | XP_016858840.1 | |||
XM_017003352.1 | XP_016858841.1 | |||
XM_017003353.1 | XP_016858842.1 | |||
AK126308.1 | ||||
AL832207.1 | CAI46132.1 | |||
AL833546.1 | ||||
BC063310.1 | AAH63310.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3891993 | Chr.2:43470750 - 43815292 on Build GRCh38 | Gain |
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dgv148e55 | Chr.2:43576289 - 43768352 on Build GRCh38 | Loss |
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dgv59n68 | Chr.2:43619845 - 43871585 on Build GRCh38 | Gain |
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nsv1007740 | Chr.2:42961811 - 44117003 on Build GRCh38 | Gain |
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esv3590536 | Chr.2:43655280 - 43725404 on Build GRCh38 | Gain |
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esv3590535 | Chr.2:43652145 - 43784858 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Additional Information:
For this assay, SNP(s) [rs143787127,rs148112877] 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: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)