Product Details
- SNP ID
-
rs200084588
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:44135079 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTGGGACTATGGGCGGCTGGCCTT[C/G]GTGACAGATGCAGACAGGTAAGGGT
- Phenotype
-
MIM: 611827
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
MRPL14
PubMed Links
Gene Details
- Gene
- MRPL14
- Gene Name
- mitochondrial ribosomal protein L14
There are no transcripts associated with this gene.
- Gene
- TMEM63B
- Gene Name
- transmembrane protein 63B
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001318792.1 |
427 |
Silent Mutation |
TTC,TTG |
F74L |
NP_001305721.1 |
| NM_018426.2 |
427 |
Silent Mutation |
TTC,TTG |
F74L |
NP_060896.1 |
| XM_005249211.3 |
427 |
Missense Mutation |
TTC,TTG |
F83L |
XP_005249268.1 |
| XM_005249213.4 |
427 |
Missense Mutation |
TTC,TTG |
F74L |
XP_005249270.1 |
| XM_005249214.4 |
427 |
Missense Mutation |
TTC,TTG |
F83L |
XP_005249271.1 |
| XM_005249215.4 |
427 |
Missense Mutation |
TTC,TTG |
F74L |
XP_005249272.1 |
| XM_005249217.1 |
427 |
Missense Mutation |
TTC,TTG |
F74L |
XP_005249274.1 |
| XM_006715135.1 |
427 |
Missense Mutation |
TTC,TTG |
F74L |
XP_006715198.1 |
| XM_017010999.1 |
427 |
Missense Mutation |
TTC,TTG |
F83L |
XP_016866488.1 |
| XM_017011000.1 |
427 |
Missense Mutation |
TTC,TTG |
F74L |
XP_016866489.1 |
| XM_017011001.1 |
427 |
Missense Mutation |
TTC,TTG |
F74L |
XP_016866490.1 |
| XM_017011002.1 |
427 |
Missense Mutation |
TTC,TTG |
F74L |
XP_016866491.1 |
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