Product Details
- SNP ID
-
rs61743443
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:92299996 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCCAGACAATCTTTCCAGGTTTCA[C/T]TGTTTCAACTCTGTAGGTCTCTATA
- Phenotype
-
MIM: 600709
MIM: 611534
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
IARS
PubMed Links
Gene Details
- Gene
- IARS
- Gene Name
- isoleucyl-tRNA synthetase
There are no transcripts associated with this gene.
- Gene
- MIR3651
- Gene Name
- microRNA 3651
There are no transcripts associated with this gene.
- Gene
- NOL8
- Gene Name
- nucleolar protein 8
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001256394.1 |
3161 |
Missense Mutation |
ATG,GTG |
M998V |
NP_001243323.1 |
NM_017948.5 |
3161 |
Missense Mutation |
ATG,GTG |
M1066V |
NP_060418.4 |
XM_006717166.3 |
3161 |
Missense Mutation |
ATG,GTG |
M1066V |
XP_006717229.1 |
XM_006717167.3 |
3161 |
Missense Mutation |
ATG,GTG |
M1066V |
XP_006717230.1 |
XM_006717168.3 |
3161 |
Missense Mutation |
ATG,GTG |
M1028V |
XP_006717231.1 |
XM_006717169.3 |
3161 |
Missense Mutation |
ATG,GTG |
M998V |
XP_006717232.1 |
XM_006717170.3 |
3161 |
Missense Mutation |
ATG,GTG |
M998V |
XP_006717233.1 |
XM_006717172.3 |
3161 |
Missense Mutation |
ATG,GTG |
M940V |
XP_006717235.1 |
XM_006717173.3 |
3161 |
Missense Mutation |
ATG,GTG |
M940V |
XP_006717236.1 |
XM_011518824.2 |
3161 |
Missense Mutation |
ATG,GTG |
M998V |
XP_011517126.1 |
XM_011518827.2 |
3161 |
Missense Mutation |
ATG,GTG |
M940V |
XP_011517129.1 |
XM_017014876.1 |
3161 |
Missense Mutation |
ATG,GTG |
M1028V |
XP_016870365.1 |
XM_017014877.1 |
3161 |
Missense Mutation |
ATG,GTG |
M960V |
XP_016870366.1 |
XM_017014878.1 |
3161 |
Missense Mutation |
ATG,GTG |
M940V |
XP_016870367.1 |
XM_017014879.1 |
3161 |
Missense Mutation |
ATG,GTG |
M940V |
XP_016870368.1 |
XM_017014880.1 |
3161 |
Missense Mutation |
ATG,GTG |
M902V |
XP_016870369.1 |
- Gene
- SNORA84
- Gene Name
- small nucleolar RNA, H/ACA box 84
There are no transcripts associated with this gene.
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