Product Details
- SNP ID
-
rs41276408
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:17969969 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTACTTCCTCTTACTCATGTGGCC[G/T]GAAGAAAAAAGTGAACCCATATGAA
- Phenotype
-
MIM: 615076
MIM: 605937
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
MGME1
PubMed Links
Gene Details
- Gene
- MGME1
- Gene Name
- mitochondrial genome maintenance exonuclease 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001310338.1 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
NP_001297267.1 |
| NM_001310339.1 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
NP_001297268.1 |
| NM_052865.3 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
NP_443097.1 |
| XM_005260867.2 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
XP_005260924.1 |
| XM_005260870.3 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
XP_005260927.1 |
| XM_006723663.3 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
XP_006723726.1 |
| XM_011529394.1 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
XP_011527696.1 |
| XM_011529395.1 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
XP_011527697.1 |
| XM_017028127.1 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
XP_016883616.1 |
| XM_017028128.1 |
368 |
Missense Mutation |
CGG,CTG |
R37L |
XP_016883617.1 |
- Gene
- SNORD17
- Gene Name
- small nucleolar RNA, C/D box 17
There are no transcripts associated with this gene.
- Gene
- SNX5
- Gene Name
- sorting nexin 5
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