Assay Details
Target Gene Details
Entrez Gene ID: | 11154 |
Gene Name: | adaptor related protein complex 4 sigma 1 subunit |
Gene Aliases: |
AP47B, CLA20, CLAPS4, CPSQ6, SPG52 |
Location: |
Chr.14:31025106-31096450 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AP4S1 | NM_001128126.2 | NP_001121598.1 | ||
NM_001254726.1 | NP_001241655.1 | |||
NM_001254727.1 | NP_001241656.1 | |||
NM_001254728.1 | NP_001241657.1 | |||
NM_001254729.1 | NP_001241658.1 | |||
NM_007077.4 | NP_009008.2 | |||
XM_005267293.4 | XP_005267350.1 | |||
XM_011536371.2 | XP_011534673.1 | |||
XM_011536372.2 | XP_011534674.1 | |||
AB030654.1 | BAA82970.1 | |||
AF155159.1 | AAD43329.1 | |||
AK304115.1 | ||||
AK316517.1 | ||||
BC001259.1 | AAH01259.1 | |||
BF671561.1 | ||||
BG702035.1 | ||||
BX247969.1 | CAD62307.1 | |||
BX388185.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv564169 | Chr.14:30349881 - 31072288 on Build GRCh38 | Gain |
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nsv1233 | Chr.14:31023799 - 31035069 on Build GRCh38 | Insertion |
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nsv1049063 | Chr.14:31004315 - 31153535 on Build GRCh38 | Gain |
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esv3892495 | Chr.14:30985830 - 31116083 on Build GRCh38 | Gain |
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esv33189 | Chr.14:30331017 - 31442539 on Build GRCh38 | Loss |
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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) [rs116290315] 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)