Product Details
- SNP ID
-
rs141948895
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:15073864 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGTCAGCACCTCTACCTCATCCAGG[C/T]GGCCGCACTGCTTGGCATCAAAGAT
- Phenotype
-
MIM: 611987
MIM: 609511
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MRPS25
PubMed Links
Gene Details
- Gene
- MRPS25
- Gene Name
- mitochondrial ribosomal protein S25
There are no transcripts associated with this gene.
- Gene
- RBSN
- Gene Name
- rabenosyn, RAB effector
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001302378.1 |
2732 |
Missense Mutation |
CAC,CGC |
H758R |
NP_001289307.1 |
| NM_022340.3 |
2732 |
Missense Mutation |
CAC,CGC |
H758R |
NP_071735.2 |
| XM_005265384.4 |
2732 |
Missense Mutation |
CAC,CGC |
H758R |
XP_005265441.1 |
| XM_005265385.4 |
2732 |
Missense Mutation |
CAC,CGC |
H758R |
XP_005265442.1 |
| XM_011534001.2 |
2732 |
Missense Mutation |
CAC,CGC |
H670R |
XP_011532303.1 |
| XM_017007023.1 |
2732 |
Missense Mutation |
CAC,CGC |
H758R |
XP_016862512.1 |
| XM_017007024.1 |
2732 |
Missense Mutation |
CAC,CGC |
H669R |
XP_016862513.1 |
| XM_017007025.1 |
2732 |
Missense Mutation |
CAC,CGC |
H669R |
XP_016862514.1 |
| XM_017007026.1 |
2732 |
Missense Mutation |
CAC,CGC |
H573R |
XP_016862515.1 |
| XM_017007027.1 |
2732 |
Missense Mutation |
CAC,CGC |
H519R |
XP_016862516.1 |
| XM_017007028.1 |
2732 |
Missense Mutation |
CAC,CGC |
H519R |
XP_016862517.1 |
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