Assay Details
Target Gene Details
Entrez Gene ID: | 163786 |
Gene Name: | SAS-6 centriolar assembly protein |
Gene Aliases: |
MCPH14, SAS-6, SAS6 |
Location: |
Chr.1:100082632-100133095 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 8 - Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SASS6 | NM_001304829.1 | NP_001291758.1 | ||
NM_194292.2 | NP_919268.1 | |||
XM_017000486.1 | XP_016855975.1 | |||
AK302513.1 | ||||
AK307824.1 | ||||
AL834265.1 | CAD38940.1 | |||
AY359522.1 | AAQ57128.1 | |||
BC101026.3 | AAI01027.1 | |||
BX641109.1 | ||||
BX648406.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv2121 | Chr.1:100115063 - 100149647 on Build GRCh38 | Insertion |
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nsv830804 | Chr.1:100036777 - 100210481 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Gene Ontology Categories:
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