Product Details
- SNP ID
-
rs139564081
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:87518635 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCCTGCAGCCTCTTCTCACCTGTG[G/T]AGGCGGGCGTGTGTGTACTGTAGGA
- Phenotype
-
MIM: 611524
MIM: 605634
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
RARS2
PubMed Links
Gene Details
- Gene
- RARS2
- Gene Name
- arginyl-tRNA synthetase 2, mitochondrial
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001318785.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
NP_001305714.1 |
| NM_020320.4 |
1813 |
Silent Mutation |
CTA,CTC |
L470L |
NP_064716.2 |
| XM_011535948.2 |
1813 |
Silent Mutation |
CTA,CTC |
L470L |
XP_011534250.1 |
| XM_011535949.2 |
1813 |
Silent Mutation |
CTA,CTC |
L470L |
XP_011534251.1 |
| XM_017011072.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
XP_016866561.1 |
| XM_017011073.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
XP_016866562.1 |
| XM_017011074.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
XP_016866563.1 |
| XM_017011075.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
XP_016866564.1 |
| XM_017011076.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
XP_016866565.1 |
| XM_017011077.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
XP_016866566.1 |
| XM_017011078.1 |
1813 |
Intron |
|
|
XP_016866567.1 |
| XM_017011079.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
XP_016866568.1 |
| XM_017011080.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
XP_016866569.1 |
| XM_017011081.1 |
1813 |
Silent Mutation |
CTA,CTC |
L295L |
XP_016866570.1 |
- Gene
- SLC35A1
- Gene Name
- solute carrier family 35 member A1
There are no transcripts associated with this gene.
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