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See other MCPH1 CNV Assays ›
Gene Symbol
MCPH1
Assay Reference Genome
Location

Chr.8:6621580 on build GRCh38
Cytoband
8p23.1
Assay ID Hs01551696_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 18
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MCPH1 NM_001322042.1 13 2417 NP_001308971.1
NM_024596.4 13 2417 NP_078872.2
XM_011534755.2 13 2417 XP_011533057.1
XM_011534760.2 9 1993 XP_011533062.1
XM_017013829.1 13 2417 XP_016869318.1
XM_017013830.1 13 2416 XP_016869319.1
XM_017013831.1 11 2215 XP_016869320.1
XM_017013832.1 10 2137 XP_016869321.1
XM_017013833.1 XP_016869322.1
XM_017013834.1 10 2137 XP_016869323.1
AI480294.1 2 291
AK022909.1 10 2056 BAB14304.1

Target Gene Details

Entrez Gene ID:

 100507530

Gene Name:

 MCPH1 antisense RNA 1

Gene Aliases:

 -

Location:

 Chr.8:6615603-6708209 on Build GRCh38

Assay Gene Location:

 Within Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MCPH1-AS1 NR_125386.1 3 285
BX335277.2 3 741
DA281269.1 3 276

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1021684 Chr.8:6492570 - 6951933 on Build GRCh38 Loss AGPAT5 DEFA6 GS1-24F4.2 XKR5 DEFB1 MCPH1-AS1 MIR4659B ANGPT2 DEFA4 DEFA8P MIR8055 MIR4659A MCPH1
nsv1161706 Chr.8:6602062 - 6630317 on Build GRCh38 Duplication MIR8055 MCPH1 MCPH1-AS1
nsv610004 Chr.8:6544845 - 6915391 on Build GRCh38 Gain AGPAT5 GS1-24F4.2 XKR5 MIR8055 MIR4659A MCPH1 DEFB1 MCPH1-AS1 MIR4659B ANGPT2
nsv1025976 Chr.8:6615427 - 6829450 on Build GRCh38 Loss AGPAT5 XKR5 MIR8055 MIR4659A MCPH1 MCPH1-AS1 MIR4659B
esv2422383 Chr.8:6504868 - 6924071 on Build GRCh38 Duplication AGPAT5 GS1-24F4.2 XKR5 MIR8055 MIR4659A MCPH1 DEFB1 MCPH1-AS1 MIR4659B ANGPT2
esv3616094 Chr.8:6548175 - 6638852 on Build GRCh38 Gain MIR8055 MCPH1 MCPH1-AS1 ANGPT2

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