Assay Details
Target Gene Details
Entrez Gene ID: | 79648 |
Gene Name: | microcephalin 1 |
Gene Aliases: |
BRIT1, MCT |
Location: |
Chr.8:6406592-6648505 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MCPH1 | NM_001172574.1 | 8 | 1434 | NP_001166045.1 |
NM_001172575.1 | 7 | 1290 | NP_001166046.1 | |
NM_001322042.1 | 8 | 1434 | NP_001308971.1 | |
NM_001322043.1 | 8 | 1428 | NP_001308972.1 | |
NM_001322045.1 | 8 | 1494 | NP_001308974.1 | |
NM_024596.4 | 8 | 1434 | NP_078872.2 | |
NR_136159.1 | 7 | 1319 | ||
XM_011534755.2 | 8 | 1434 | XP_011533057.1 | |
XM_011534756.2 | 8 | 1433 | XP_011533058.1 | |
XM_011534757.2 | 8 | 1433 | XP_011533059.1 | |
XM_011534758.2 | 8 | 1433 | XP_011533060.1 | |
XM_011534759.2 | 8 | 1433 | XP_011533061.1 | |
XM_011534760.2 | 4 | 1010 | XP_011533062.1 | |
XM_017013829.1 | 8 | 1434 | XP_016869318.1 | |
XM_017013830.1 | 8 | 1433 | XP_016869319.1 | |
XM_017013831.1 | 8 | 1433 | XP_016869320.1 | |
XM_017013832.1 | 8 | 1433 | XP_016869321.1 | |
XM_017013833.1 | 8 | 1433 | XP_016869322.1 | |
XM_017013834.1 | 8 | 1433 | XP_016869323.1 | |
AK022909.1 | 5 | 1073 | BAB14304.1 | |
AK301702.1 | 7 | 1239 | ||
BC030702.1 | 8 | 1431 | AAH30702.2 | |
BX369769.2 | 1 | 635 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv6868n100 | Chr.8:6266604 - 6447293 on Build GRCh38 | Gain |
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esv3576515 | Chr.8:6377962 - 6478027 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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Panther Classification:
Molecular Function -
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_next.png)
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Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)