Gene: PMP22 ENSG00000109099

Description

peripheral myelin protein 22 [Source:HGNC Symbol;Acc:9118]

Gene Synonyms

CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110

Location

Chromosome 17: 15,133,095-15,168,643 reverse strand.

GRCh37:CM000679.1

About this gene

This gene has 8 transcripts (splice variants), 3 paralogues and is associated with 11 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000395938.2	PMP22-001	1817	160aa	ENSP00000379269.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11168	B4DUL1 Q01453 Q6FH25	NM_153321.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000312280.3	PMP22-002	1810	160aa	ENSP00000308937.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11168	B4DUL1 Q01453 Q6FH25	NM_153322.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000494511.1	PMP22-004	872	161aa	ENSP00000462782.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KT36 J3QS08	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000395936.1	PMP22-003	816	118aa	ENSP00000379268.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A8MU75	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000426385.3	PMP22-008	571	125aa	ENSP00000409824.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KQW0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000580584.1	PMP22-006	428	51aa	ENSP00000464468.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3QS08	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000471150.2	PMP22-005	637	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000580497.1	PMP22-007	576	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: PMP22 ENSG00000109099

Summary