tRNA methyltransferase 10 homolog C (S. cerevisiae) [Source:HGNC Symbol;Acc:26022]
3
101280706
101285290
1
q12.3
101280706
101285290
TRMT10C
TRMT10C-001
HGNC Symbol
HGNC transcript name
2
41.24
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
54931
26022
TRMT10C
NM_017819
27517
MSeqDR Master Exome Data Set M1: 15 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
3
101283792
C
G
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
c.167C>G
p.P56R
non-syn
rs3762735
0.11835
G=1330/C=6866;G=381/C=3359;G=1711/C=10225
-
TOLERATED
B
-
het
221
2
3
101283792
C
G
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
c.167C>G
p.P56R
non-syn
rs3762735
0.11835
G=1330/C=6866;G=381/C=3359;G=1711/C=10225
-
TOLERATED
B
-
hom
20
3
3
101283792
C
G
ENST00000495642
ENSG00000174173
101280706
101285290
ENSP00000419389
TRMT10C
1
-
c.167C>G
p.P56R
non-syn
rs3762735
0.11835
G=1330/C=6866;G=381/C=3359;G=1711/C=10225
-
TOLERATED
B
-
het
221
4
3
101283792
C
G
ENST00000495642
ENSG00000174173
101280706
101285290
ENSP00000419389
TRMT10C
1
-
c.167C>G
p.P56R
non-syn
rs3762735
0.11835
G=1330/C=6866;G=381/C=3359;G=1711/C=10225
-
TOLERATED
B
-
hom
20
5
3
101283898
A
G
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
c.273A>G
p.L91L
syn
NA
-
-
-
-
-
-
het
1
6
3
101283898
A
G
ENST00000495642
ENSG00000174173
101280706
101285290
ENSP00000419389
TRMT10C
1
-
c.273A>G
p.L91L
syn
NA
-
-
-
-
-
-
het
1
7
3
101284414
A
G
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
c.789A>G
p.Q263Q
syn
rs182835797
0.00091
-
lod=55:397
-
-
-
het
2
8
3
101284414
A
G
ENST00000495642
ENSG00000174173
101280706
101285290
ENSP00000419389
TRMT10C
1
-
c.789A>G
p.Q263Q
syn
rs182835797
0.00091
-
lod=55:397
-
-
-
het
2
9
3
101284875
C
T
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
-
-
3'_UTR
rs146878542
0.0033
-
-
-
-
-
het
2
10
3
101284940
T
C
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
-
-
3'_UTR
rs72948069
0.0565
-
-
-
-
-
het
4
11
3
101284940
T
C
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
-
-
3'_UTR
rs72948069
0.0565
-
-
-
-
-
hom
1
12
3
101285086
C
T
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
3
101285224
G
A
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
-
-
3'_UTR
rs4683931
0.2073
-
-
-
-
-
het
57
14
3
101285224
G
A
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
-
-
3'_UTR
rs4683931
0.2073
-
-
-
-
-
hom
3
15
3
101285259
T
C
ENST00000309922
ENSG00000174173
101280706
101285290
ENSP00000312356
TRMT10C
1
MRRP1_HUMAN
-
-
3'_UTR
rs146675871
0.0212
-
-
-
-
-
het
2
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