Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000395938.2PMP22-0011817160aaENSP00000379269.2
 
Protein coding
CCDS11168B4DUL1 Q01453 Q6FH25
NM_153321.2GENCODE basic
ENST00000312280.3PMP22-0021810160aaENSP00000308937.3
 
Protein coding
CCDS11168B4DUL1 Q01453 Q6FH25
NM_153322.2GENCODE basic
ENST00000494511.1PMP22-004872161aaENSP00000462782.1
 
Protein coding
J3KT36 J3QS08 -GENCODE basic
ENST00000395936.1PMP22-003816118aaENSP00000379268.1
 
Protein coding
A8MU75 -GENCODE basic
ENST00000426385.3PMP22-008571125aaENSP00000409824.3
 
Protein coding
J3KQW0 -GENCODE basic
ENST00000580584.1PMP22-00642851aaENSP00000464468.1
 
Protein coding
J3QS08 -CDS 3' incomplete
ENST00000471150.2PMP22-005637No protein-
 
Retained intron
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ENST00000580497.1PMP22-007576No protein-
 
Retained intron
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