MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
TPK1 (thiamin pyrophosphokinase 1)
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TPK1 gene homepage
MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol
TPK1
Gene name
thiamin pyrophosphokinase 1
Chromosome
7
Chromosomal band
q34-q35
Imprinted
Unknown
Genomic reference
NC_000007.13
Transcript reference
NM_001042482.1
,
NM_022445.3
,
XM_005249970.1
,
XM_005249971.1
,
XM_005249972.1
,
XM_005249973.1
,
XM_005249974.1
,
XM_005249975.1
,
XR_242180.1
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 07, 2013
Links to other resources
HGNC
17358
Entrez Gene
27010
PubMed articles
TPK1
OMIM - Gene
606370
HGMD
TPK1
GeneCards
TPK1
GeneTests
TPK1
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
00000337
7
transcript variant X1
XM_005249970.1
XP_005250027.1
0
00000338
7
transcript variant 2
NM_001042482.1
NP_001035947.1
0
00000339
7
transcript variant 1
NM_022445.3
NP_071890.2
0
00000340
7
transcript variant X7
XR_242180.1
-
0
00000341
7
transcript variant X2
XM_005249971.1
XP_005250028.1
0
00000342
7
transcript variant X6
XM_005249975.1
XP_005250032.1
0
00000343
7
transcript variant X4
XM_005249973.1
XP_005250030.1
0
00000344
7
transcript variant X5
XM_005249974.1
XP_005250031.1
0
00000345
7
transcript variant X3
XM_005249972.1
XP_005250029.1
0
Copyright & disclaimer
Sources: GeneDX http://www.genedx.com
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium
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