Product Details

SNP ID
rs2512632
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:73800010 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCTGGGTTTGAATTTCTCTTACC[A/C]AACCTATAACTTTGGGCAATTTACA
Phenotype
MIM: 611853
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MRPL48 PubMed Links

Gene Details

Gene
MRPL48
Gene Name
mitochondrial ribosomal protein L48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318498.1 Intron NP_001305427.1
NM_001318499.1 Intron NP_001305428.1
NM_001318500.1 Intron NP_001305429.1
NM_016055.5 Intron NP_057139.1
XM_017017919.1 Intron XP_016873408.1

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