Product Details

SNP ID
rs200573354
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10252441 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAGGCAGCGCGTGCGACCGAGAA[A/C]CCGGAGCAGGTGGCGAGCGAGGGTA
Phenotype
MIM: 611823
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MRPL4 PubMed Links

Gene Details

Gene
MRPL4
Gene Name
mitochondrial ribosomal protein L4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015956.2 256 Missense Mutation AAA,AAC K34N NP_057040.2
NM_146387.1 256 Missense Mutation AAA,AAC K34N NP_666499.1
NM_146388.1 256 Missense Mutation AAA,AAC K34N NP_666500.1
XM_011528045.2 256 Missense Mutation AAA,AAC K34N XP_011526347.1

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