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: | Within Exon 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SASS6 | NM_001304829.1 | 16 | 3789 | NP_001291758.1 |
NM_194292.2 | 17 | 3869 | NP_919268.1 | |
XM_017000486.1 | 17 | 3635 | XP_016855975.1 | |
AK025750.1 | 5 | 2167 | ||
AL834265.1 | 13 | 3132 | CAD38940.1 | |
AY359522.1 | 17 | 3729 | AAQ57128.1 | |
BX113339.1 | 1 | 181 | ||
BX641109.1 | 16 | 3780 | ||
BX648406.1 | 17 | 3626 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830804 | Chr.1:100036777 - 100210481 on Build GRCh38 | Gain | LRRC39 SASS6 DBT TRMT13 MFSD14A |
nsv546888 | Chr.1:99954311 - 100084889 on Build GRCh38 | Loss | SLC35A3 SASS6 MFSD14A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |