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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: MCPH1 ENSG00000147316

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Description

microcephalin 1 [Source:HGNC Symbol;Acc:6954]

Gene Synonyms

BRIT1, FLJ12847, MCT

Location

Chromosome 8: 6,264,113-6,501,144 forward strand.

GRCh37:CM000670.1

About this gene

This gene has 7 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000344683.5	MCPH1-001	3158	835aa	ENSP00000342924.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS43689	Q6RA50 Q6RAB6 Q6RAP8 Q6RAZ4 Q6RB60 Q6RBC6 Q6RBJ2 Q6RBQ8 Q6RBX4 Q6W7E5	NM_024596.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000519480.1	MCPH1-002	2917	610aa	ENSP00000430962.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55190	Q6RAZ4 Q6RB60 Q6RBC6 Q6RBJ2 Q6RBQ8 Q6RBX4 Q8NEM0	NM_001172574.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000522905.1	MCPH1-003	2049	562aa	ENSP00000430768.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55191	Q6RAZ4 Q6RBC6 Q6RBJ2 Q6RBQ8 Q6RBX4 Q8NEM0	NM_001172575.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000521175.1	MCPH1-005	777	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000521129.1	MCPH1-004	540	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000519221.1	MCPH1-007	539	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000522020.1	MCPH1-006	470	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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