Product Details
- SNP ID
-
rs146381004
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:22766601 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGTTCTCTTTTACCGCCTGATCTGC[C/G]GCTACAATTCTGGCTTCATGCCCGC
- Phenotype
-
MIM: 601066
MIM: 603593
- Polymorphism
- C/G, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
OXA1L
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs1957374] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- OXA1L
- Gene Name
- OXA1L, mitochondrial inner membrane protein
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_005015.3 |
80 |
Missense Mutation |
CCG,CGG |
P27R |
NP_005006.3 |
- Gene
- SLC7A7
- Gene Name
- solute carrier family 7 member 7
There are no transcripts associated with this gene.
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