Product Details

SNP ID
rs150828940
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:368348 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCACCTTCTCCTCCAAAAGTCTCT[A/G]CTTCTCAATGGCCTCCTCCAGCGTG
Phenotype
MIM: 604853
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
MRPL28 PubMed Links

Gene Details

Gene
MRPL28
Gene Name
mitochondrial ribosomal protein L28
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006428.4 676 Nonsense Mutation CAG,TAG Q215* NP_006419.2
XM_005255041.1 676 Nonsense Mutation CAG,TAG Q215* XP_005255098.1
XM_011522351.2 676 Nonsense Mutation CAG,TAG Q215* XP_011520653.1
Gene
TMEM8A
Gene Name
transmembrane protein 8A
There are no transcripts associated with this gene.

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