MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
PYCR1 (pyrroline-5-carboxylate reductase 1)
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PYCR1 gene homepage
MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol
PYCR1
Gene name
pyrroline-5-carboxylate reductase 1
Chromosome
17
Chromosomal band
q25.3
Imprinted
Unknown
Genomic reference
NC_000017.10
Transcript reference
NM_006907.2
,
NM_153824.1
,
XM_005256379.1
,
XM_005256380.1
,
XM_005256381.1
,
XM_005256382.1
,
XM_005256383.1
,
XM_005256384.1
,
XM_005256385.1
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
9721
Entrez Gene
5831
PubMed articles
PYCR1
OMIM - Gene
179035
HGMD
PYCR1
GeneCards
PYCR1
GeneTests
PYCR1
Active transcripts
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID
Chr
Name
NCBI ID
NCBI Protein ID
Variants
00002701
17
transcript variant X5
XM_005256383.1
XP_005256440.1
0
00002702
17
transcript variant X2
XM_005256380.1
XP_005256437.1
0
00002703
17
transcript variant X3
XM_005256381.1
XP_005256438.1
0
00002704
17
transcript variant X6
XM_005256384.1
XP_005256441.1
0
00002705
17
transcript variant X7
XM_005256385.1
XP_005256442.1
0
00002706
17
transcript variant X1
XM_005256379.1
XP_005256436.1
0
00002707
17
transcript variant X4
XM_005256382.1
XP_005256439.1
0
00002708
17
transcript variant 2
NM_153824.1
NP_722546.1
0
00002709
17
transcript variant 1
NM_006907.2
NP_008838.2
0
Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium
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