MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
PCBD2 (pterin-4 alpha-carbinolamine dehydratase/dim...)
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MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol
PCBD2
Gene name
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
Chromosome
5
Chromosomal band
q31.1
Imprinted
Unknown
Genomic reference
NC_000005.9
Transcript reference
NM_032151.4
Associated with diseases
-
Citation reference(s)
-
Curators (0)
-
Total number of public variants reported
0
Unique public DNA variants reported
0
Individuals with public variants
0
Hidden variants
0
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Notes
MSeqDR-LSDB
Date created
November 15, 2013
Links to other resources
HGNC
24474
Entrez Gene
84105
PubMed articles
PCBD2
OMIM - Gene
609836
HGMD
PCBD2
GeneCards
PCBD2
GeneTests
PCBD2
Active transcripts
Legend
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ID
Chr
Name
NCBI ID
NCBI Protein ID
Variants
00002587
5
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
NM_032151.4
NP_115527.3
0
Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium
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